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List of works by Melissa C. Southey

10-year performance of four models of breast cancer risk: a validation study

scientific article published on 21 February 2019

1152Use of Facebook to recruit cohort study participants

scholarly article by Fiona Bruinsma et al published 1 September 2021 in International Journal of Epidemiology

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

scientific article published on 13 February 2012

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

scientific article

5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia.

scientific article

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A BRCA1 promoter variant (rs11655505) and breast cancer risk

scientific article published in April 2010

A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer

scientific article published on 03 October 2019

A PALB2 mutation associated with high risk of breast cancer

scientific article

A Systematic Approach to Analysing Gene-Gene Interactions: Polymorphisms at the Microsomal Epoxide Hydrolase EPHX and Glutathione S-transferase GSTM1, GSTT1, and GSTP1 Loci and Breast Cancer Risk

article

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A common coding variant in CASP8 is associated with breast cancer risk

article

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

scientific article published on 30 October 2011

A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density

scientific article

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

A genome-wide "pleiotropy scan" does not identify new susceptibility loci for estrogen receptor negative breast cancer

scientific article

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

scientific article

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A genome-wide linkage study of mammographic density, a risk factor for breast cancer

scientific article published on 21 December 2011

A high-plex PCR approach for massively parallel sequencing.

scientific article published on August 2013

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

scientific article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

scientific article published on 14 September 2014

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

scientific article

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

scientific article

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

scientific article published on 12 April 2012

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

scientific article published on 10 August 2009

A prospective study of peripheral blood DNA methylation at RPTOR, MGRN1 and RAPSN and risk of breast cancer

A protein-truncating mutation inCYP17A1 in three sisters with early-onset breast cancer

A range of simple summary genome-wide statistics for detecting genetic linkage using high density marker data

scientific article

A role for XRCC2 gene polymorphisms in breast cancer risk and survival

scientific article published on 31 May 2011

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.

scientific article published in July 2003

A three-protein biomarker panel assessed in diagnostic tissue predicts death from prostate cancer for men with localized disease

scientific article

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

scientific article published on 18 June 2018

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry

scientific article

Abridged adapter primers increase the target scope of Hi-Plex

scientific article published in January 2015

Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool

scientific article published on 19 September 2019

Active tyrosine phosphatase in immunoprecipitates of multiple isoforms of Ly-5

scientific article published on 01 January 1990

Adaptive evolution of the tumour suppressor BRCA1 in humans and chimpanzees. Australian Breast Cancer Family Study

scientific article

Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study

scientific article published on 10 July 2016

Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study

scientific article published on 20 March 2018

Adult serum cytokine concentrations and the persistence of asthma

scientific article published on 14 May 2013

After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer

scientific article

AfterhMSH2 andhMLH1?what next? Analysis of three-generational, population-based, early-onset colorectal cancer families

article

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

scientific article

Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC)

Alcohol consumption is associated with widespread changes in blood DNA methylation: Analysis of cross-sectional and longitudinal data

scientific article published on 02 December 2019

Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC)

scientific article published on 28 November 2019

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

scientific article published on 19 March 2019

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome

scientific article

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

scientific article

Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

journal article published in 2015

Analysis of the breast cancer methylome using formalin-fixed paraffin-embedded tumour

scientific article published on 07 September 2016

Analytical validation of an error-corrected ultra-sensitive ctDNA next-generation sequencing assay

scientific article published on 13 July 2020

Androgen Receptor Exon 1 CAG Repeat Length and Breast Cancer in Women Before Age Forty Years

article

Androgens alter the heterogeneity of small extracellular vesicles and the small RNA cargo in prostate cancer

scientific article published on 18 August 2021

Are PALB2 mutations associated with increased risk of male breast cancer?

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

scientific article published on 5 June 2008

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

scientific article

Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study

scientific article published on 24 March 2018

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer

scientific article published on 21 June 2016

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association between DNA methylation at SOCS3 gene and body mass index might be due to familial confounding

scientific article published on 27 February 2017

Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

scientific article

Association of DNA Methylation-Based Biological Age with Health Risk Factors, and Overall and Cause-Specific Mortality

scientific article published on 17 August 2017

Association of ESR1 gene tagging SNPs with breast cancer risk

scientific article published on 06 January 2009

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Association of breast cancer risk loci with breast cancer survival

scientific article

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

scientific article published on 18 August 2021

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

scientific article published on 10 September 2020

Associations of alcohol intake, smoking, physical activity and obesity with survival following colorectal cancer diagnosis by stage, anatomic site and tumor molecular subtype

scientific article published on 16 September 2017

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

Associations of mammographic dense and nondense areas and body mass index with risk of breast cancer.

scientific article published on 28 October 2013

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

scientific article published on 7 April 2016

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

scholarly article published in Nature Genetics

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

scholarly article published in Nature Genetics

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics

scientific article

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research

scientific article published on 14 August 2008

BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50.

scientific article

BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer

scientific article published on January 1999

BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study

scientific article

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays

scientific article

Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort

scientific article published on 20 February 2019

Blood DNA methylation and breast cancer risk: a meta-analysis of four prospective cohort studies

Blood pressure and risk of breast cancer, overall and by subtypes: a prospective cohort study

scientific article published on 30 March 2017

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

scientific article

Body size and dietary risk factors for aggressive prostate cancer: a case-control study

scientific article published on 24 September 2019

Body size and risk for colorectal cancers showing BRAF mutations or microsatellite instability: a pooled analysis

scientific article published on 24 April 2012

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast Cancer Prognosis inBRCA1andBRCA2Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study

article

Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States

scientific article

Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry

scientific article published on 16 December 2015

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry

scientific article published on 31 October 2011

Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab

scientific article published on 12 May 2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CFTR deltaF508 carrier status, risk of breast cancer before the age of 40 and histological grading in a population-based case-control study

scientific article published on October 1998

CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

scientific article

COEXISTENT T-CELL LYMPHOBLASTIC LYMPHOMA AND AN ATYPICAL MYELOPROLIFERATIVE DISORDER ASSOCIATED WITH t(8;13)(p21;q14)

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

scientific article published on 21 June 2013

CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study

scientific article

CYP17 promoter polymorphism and breast cancer in Australian women under age forty years

scientific article published on 01 October 2000

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Cancer Risks For Mismatch Repair Gene Mutation Carriers: A Population-Based Early Onset Case-Family Study

article

Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

scientific article

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

scientific article published in February 2015

Causal effect of smoking on DNA methylation in peripheral blood: a twin and family study

scientific article published on 9 February 2018

Causes of blood methylomic variation for middle-aged women measured by the HumanMethylation450 array

Characterisation of microbial communities within aggressive prostate cancer tissues

scientific article published on 13 January 2017

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Chromosomal localization of the human P2y6 purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family

scientific article

Circulating concentrations of B group vitamins and urothelial cell carcinoma

scientific article published on 03 December 2018

Cirrus: An Automated Mammography-Based Measure of Breast Cancer Risk Based on Textural Features

scientific article published on 01 October 2018

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer

scientific article published on 22 September 2015

Coexistent T-cell lymphoblastic lymphoma and an atypical myeloproliferative disorder associated with t(8;13)(p21;q14).

scientific article published on January 1997

Cohort Profile: Melbourne Atopy Cohort study (MACS).

scientific article published on 20 April 2016

Cohort Profile: The Melbourne Collaborative Cohort Study (Health 2020).

scientific article published on 21 June 2017

Cohort Profile: The Tasmanian Longitudinal Health STUDY (TAHS).

scientific article published on 6 June 2016

Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

scientific article published on 13 February 2012

Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features

scientific article

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

scientific article published on 02 May 2020

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

scientific article published on 19 June 2015

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk

scientific article published on 27 March 2012

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common genetic variants associated with breast cancer and mammographic density measures that predict disease

scientific article published on 9 February 2010

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

scientific article

Common variants in ZNF365 are associated with both mammographic density and breast cancer risk

scientific article

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Comparing Five-Year and Lifetime Risks of Breast Cancer in the Prospective Family Study Cohort

scientific article published on 10 December 2020

Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations

scientific article published on July 2002

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

scientific article

Comprehensive analysis of the cytokine-rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk

article

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Confirmation of the reduction of hormone replacement therapy-related breast cancer risk for carriers of the HSD17B1_937_G variant

scientific article

Considerations when using breast cancer risk models for women with negative BRCA1/BRCA2 mutation results

scientific article published on 04 October 2019

Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

scientific article

Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer

scientific article

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry

scientific article

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Corrigendum: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

scientific article published in February 2018

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing.

scientific article

Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

scientific article published on 19 December 2019

Cytomegalovirus, Epstein-Barr virus and risk of breast cancer before age 40 years: a case-control study

scientific article published on June 2004

DNA Methylation in Breast Tumor from High-risk Women in the Breast Cancer Family Registry

scientific article

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

DNA methylation changes measured in pre-diagnostic peripheral blood samples are associated with smoking and lung cancer risk

scientific article published on 15 September 2016

DNA methylation in peripheral blood and risk of gastric cancer: a prospective nested case-control study

scientific article published on 21 September 2020

DNA methylation-based biological age, genome-wide average DNA methylation, and conventional breast cancer risk factors

scientific article published on 21 October 2019

DNA methylation-based biological aging and cancer risk and survival: Pooled analysis of seven prospective studies

scientific article

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

scientific article published on 19 December 2013

De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation

scientific article published in August 1999

Dependence of colorectal cancer risk on the parent-of-origin of mutations in DNA mismatch repair genes

scientific article published on 25 January 2011

Design considerations for massively parallel sequencing studies of complex human disease

scientific article

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.

scientific article

Detection of infectious organisms in archival prostate cancer tissues

scientific article

Diagnostic chest X-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers

scientific article

Dietary Intake of Nutrients Involved in One-Carbon Metabolism and Risk of Gastric Cancer: A Prospective Study

scientific article published on 15 March 2019

Dietary intake of nutrients involved in one-carbon metabolism and risk of urothelial cell carcinoma: A prospective cohort study

scientific article published on 15 February 2018

Dietary intake of one-carbon metabolism nutrients and DNA methylation in peripheral blood

scientific article published on 01 September 2018

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Disseminated, multiclonal Epstein-Barr virus-associated lymphoproliferative disease in a patient with hematological and immunological anomalies. Molecular analysis correlates with morphological appearance

scientific article

Double-Strand Break Repair Gene Polymorphisms and Risk of Breast or Ovarian Cancer

article

Dynamic changes in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers during various murine peripartum states and over time

scientific article published on 24 July 2013

Dysfunctional epigenetic aging of the normal colon and colorectal cancer risk

scientific article published on 03 January 2020

ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer

scientific article (publication date: 4 June 2003)

EWS/FLI-1 Fusion Transcript Detection and MIC2 Immunohistochemical Staining in the Diagnosis of Ewing's Sarcoma

scientific article published on 01 May 1996

Early life affects late-life health through determining DNA methylation across the lifespan: A twin study

scientific article published on 14 March 2022

Effects of Tamoxifen and oestrogen on histology and radiographic density in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers.

scientific article

Ejaculatory frequency and the risk of aggressive prostate cancer: Findings from a case-control study

scientific article published on 27 March 2017

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

scientific article published on 19 January 2017

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

scientific article published in 2013

Epigenetic supersimilarity of monozygotic twin pairs ⬇️

scientific article published on 9 January 2018

Epigenome-wide association study for lifetime estrogen exposure identifies an epigenetic signature associated with breast cancer risk

Epigenome-wide methylation in DNA from peripheral blood as a marker of risk for breast cancer

article

Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk

scientific article

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

scholarly article published in Nature Genetics

Erratum: Corrigendum: Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

scientific article published in Nature Communications

Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 19 November 2019

Estrogen Receptor Polymorphism at Codon 325 and Risk of Breast Cancer in Women Before Age Forty

article

Ethnicity and Risk for Colorectal Cancers Showing Somatic BRAF V600E Mutation or CpG Island Methylator Phenotype

article

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study

scientific article published on 17 December 2014

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

scientific article

Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk

scientific article published on 16 July 2019

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

scientific article

Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients

scientific article published on 2 November 2015

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

scientific article published on 27 October 2011

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

scientific article published on 27 March 2013

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Explaining variance in the cumulus mammographic measures that predict breast cancer risk: a twins and sisters study.

scientific article published on 15 October 2013

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Expression of the P2Y6 purinergic receptor in human T cells infiltrating inflammatory bowel disease.

scientific article

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

scientific article

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

scientific article published on 19 January 2018

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

scientific article published on 25 February 2013

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Familial Risks, Early-Onset Breast Cancer, and BRCA1 and BRCA2 Germline Mutations

scientific article published on 01 March 2003

Familial correlations in postmenopausal serum concentrations of sex steroid hormones and other mitogens: a twins and sisters study

scientific article published on 22 October 2009

Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry

scientific article

Family-based association study of IGF1 microsatellites and height, weight, and body mass index

scientific article published on 19 March 2010

Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk

scientific article published on 20 February 2009

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

scientific article published on 07 September 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

scientific article published on 11 June 2018

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

scientific article

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

scientific article

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

scientific article

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

scientific article published in July 2021

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

scientific article published on April 2013

Gene panel testing for hereditary breast cancer

article

Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

scientific article published on 3 July 2017

Gene-panel sequencing and the prediction of breast-cancer risk

scientific article

Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes

scientific article

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

scientific article published on 15 July 2021

Genetic and Environmental Causes of Variation in the Difference Between Biological Age Based on DNA Methylation and Chronological Age for Middle-Aged Women

scientific article published on 3 November 2015

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

article

Genetic and environmental causes of variation in epigenetic aging across the lifespan

scientific article published on 22 October 2020

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study

scientific article

Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

scientific article published on 13 August 2019

Genetic predisposition to ductal carcinoma in situ of the breast

scientific article published on 17 February 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

scientific article

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

scientific article published on 10 August 2020

Genetic variants in the vitamin D receptor gene and prostate cancer risk

scientific article published in April 2005

Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome

scientific article

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

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Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

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Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

scientific article published on 30 November 2015

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

scientific article published on 27 May 2005

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

scientific article published on 01 January 2019

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

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Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21.

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Genome-Wide Measures of Peripheral Blood Dna Methylation and Prostate Cancer Risk in a Prospective Nested Case-Control Study

scientific article published on 24 January 2017

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide DNA methylation assessment of ‘BRCA1-like’ early-onset breast cancer: Data from the Australian Breast Cancer Family Registry

article

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

scientific article published on 06 February 2017

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.

scientific article published on 4 June 2016

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

scientific article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

scientific article published on 9 December 2013

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

scientific article

Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

scientific article

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide association study of peripheral blood DNA methylation and conventional mammographic density measures

scientific article published on 12 February 2019

Genome-wide association study of prostate cancer-specific survival

scientific article published on 25 August 2015

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

scientific article published on 5 November 2013

Genome-wide average DNA methylation is determined in utero

scientific article published on 6 March 2018

Genome-wide measures of DNA methylation in peripheral blood and the risk of urothelial cell carcinoma: a prospective nested case-control study

scientific article published on 4 August 2016

Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

scientific article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development

scientific article

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

scientific article

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

scientific article published on 19 February 2016

Germline sequencing DNA repair genes in 5,545 men with aggressive and non-aggressive prostate cancer

scientific article published on 27 August 2020

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

scientific article published on 5 October 2021

Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases

scientific article published on 3 January 2018

Global measures of peripheral blood-derived DNA methylation as a risk factor in the development of mature B-cell neoplasms

scientific article published on 18 December 2015

HFE C282Y homozygotes are at increased risk of breast and colorectal cancer

scientific article published on April 2010

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

scientific article published on July 2009

HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes.

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HRAS1 Rare Minisatellite Alleles and Breast Cancer in Australian Women Under Age Forty Years

article

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

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Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

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Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium

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Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium

article by Artitaya Lophatananon et al published 20 March 2018 in British Journal of Cancer

Heritable DNA methylation marks associated with susceptibility to breast cancer

scientific article published on 28 February 2018

Heritable methylation marks associated with breast and prostate cancer risk

scientific article published on 29 May 2018

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

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Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers

scientific article published on 17 December 2015

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

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Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

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Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

scientific article published on 03 July 2019

High and low mammographic density human breast tissues maintain histological differential in murine tissue engineering chambers

scientific article published on 23 June 2012

Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 08 August 2019

Hypomethylation of smoking-related genes is associated with future lung cancer in four prospective cohorts

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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

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Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.

scientific article published on January 2013

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

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Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of a novel percent mammographic density locus at 12q24.

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Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript

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Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

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Identification of new genetic risk factors for prostate cancer

scientific article published on December 2008

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

scientific article

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

Identification of novel genetic markers of breast cancer survival

scientific article published on 18 April 2015

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Image-guided sampling reveals increased stroma and lower glandular complexity in mammographically dense breast tissue

article

Improving our understanding of breast cancer tumorigenesis across ethnicities

scientific article published on 01 August 2019

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

journal article published in 2014

In Reply:

Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations

scientific article

Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry

scientific article published on 16 March 2017

Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts

scientific article published in 2022

Inference about causation between body mass index and DNA methylation in blood from a twin family study

article by Shuai Li et al published 17 May 2018 in International Journal of Obesity

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

scientific article

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

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Integrating DNA methylation measures to improve clinical risk assessment: are we there yet? The case of BRCA1 methylation marks to improve clinical risk assessment of breast cancer

scientific article published on 18 February 2020

Interleukin-6 promoter variants, prostate cancer risk, and survival

article

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Interpretation of genomic variation and disease association: the great missense mutation challenge!

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Interval breast cancer risk associations with breast density, family history and breast tissue aging

scientific article published on 14 October 2019

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

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Iron-overload-related disease in HFE hereditary hemochromatosis

scientific article

Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?

Is MSH2 a breast cancer susceptibility gene?

scientific article published on 6 October 2007

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

scientific article published on 8 February 2018

Is uptake of genetic testing for colorectal cancer influenced by knowledge of insurance implications?

scientific article published on 01 September 2009

Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk

article

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

scientific article published on 5 January 2018

Large genomic alterations in hMSH2 and hMLH1 in early-onset colorectal cancer: identification of a large complex de novo hMLH1 alteration

scientific article published on 01 September 2006

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Letter in response to “Identifying Lynch syndrome” by de la Chapelle et al

scientific article published on 01 June 2010

Lifetime alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- but not BRAF+ colorectal cancer

scientific article published on 10 December 2016

Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)

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Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years.

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Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma

scientific article

Lymphoproliferative disease of donor origin arising in patients after orthotopic liver transplantation

scientific article published on 01 November 1994

Macrophage Inhibitory Cytokine-1 H6D Polymorphism, Prostate Cancer Risk, and Survival

scientific article published on 01 June 2006

Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer

scientific article published in February 2005

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Mammographic breast density and breast cancer: evidence of a shared genetic basis

scientific article

Mammographic density and candidate gene variants: a twins and sisters study

scientific article published in July 2007

Mammographic density and risk of breast cancer by mode of detection and tumor size: a case-control study

scientific article published on 18 June 2016

Mammographic density and risk of breast cancer by tumor characteristics: a case-control study

scientific article published on 16 December 2017

Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk

scientific article published on 8 October 2016

Medical radiation exposure and breast cancer risk: findings from the Breast Cancer Family Registry

scientific article published on July 2007

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer

scientific article published on 13 July 2020

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

scientific article published on 9 March 2016

Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

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Methylation alteration of SHANK1 as a predictive, diagnostic and prognostic biomarker for chronic lymphocytic leukemia

scientific article published on 13 August 2019

Methylation marks of prenatal exposure to maternal smoking and risk of cancer in adulthood

scientific article published on 10 November 2020

Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry

scientific article

MicroRNA related polymorphisms and breast cancer risk

scientific article

Microsatellite Instability Markers for Identifying Early-Onset Colorectal Cancers Caused by Germ-Line Mutations in DNA Mismatch Repair Genes

article

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

scientific article published on 14 February 2020

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

scientific article

Molecular Characterization and Cancer Risk Associated with BRCA1 and BRCA2 Splice Site Variants Identified in Multiple-Case Breast Cancer Families

Molecular Pathologic Analysis Enhances the Diagnosis and Management of Muir-Torre Syndrome and Gives Insight Into Its Underlying Molecular Pathogenesis

scientific article published on 01 July 2001

Molecular analysis in the diagnosis of pediatric lymphomas

scientific article published on May 1996

Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

Molecular cloning and sequencing of a novel human P2 nucleotide receptor

scientific article published on November 1996

Molecular screening of all colorectal tumors diagnosed before age 50 years followed by genetic testing efficiently identifies Lynch syndrome cases

article

Morphological predictors of BRCA1 germline mutations in young women with breast cancer.

scientific article

Mortality after breast cancer as a function of time since diagnosis by estrogen receptor status and age at diagnosis

scientific article published on 05 March 2019

Mould-sensitized adults have lower Th2 cytokines and a higher prevalence of asthma than those sensitized to other aeroallergens.

scientific article published on 22 June 2016

Multigene testing of moderate-risk genes: be mindful of the missense

scientific article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Multiple loci on 8q24 associated with prostate cancer susceptibility

scientific article published on 20 September 2009

Multiple newly identified loci associated with prostate cancer susceptibility

scientific article

Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium

scientific article

Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

scientific article published on 29 May 2015

Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients

article

Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study.

scientific article

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

scientific article

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

scientific article

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

No Association between Common Chemokine and Chemokine Receptor Gene Variants and Prostate Cancer Risk

article

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study

scientific article published on 30 May 2010

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years

scientific article

Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures

scientific article published on 10 April 2015

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

scientific article published on 01 February 2019

Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients

scientific article (publication date: August 2001)

Novel associations between blood DNA methylation and body mass index in middle-aged and older adults

scientific article

Novel mammogram-based measures improve breast cancer risk prediction beyond an established mammographic density measure

scientific article published on 16 November 2020

Obtaining high quality transcriptome data from formalin-fixed, paraffin-embedded diagnostic prostate tumor specimens

scientific article published on 16 January 2018

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

scientific article published on 01 April 2018

Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations

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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

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Overall lack of replication of associations between dietary intake of folate and vitamin B-12 and DNA methylation in peripheral blood

scientific article published on 01 January 2020

Overexpression of the steroid receptor coactivator AIB1 in breast cancer correlates with the absence of estrogen and progesterone receptors and positivity for p53 and HER2/neu.

scientific article

PALB2 Genetic Variants: Can Functional Assays Assist Translation?

scientific article published on 13 February 2020

PALB2 and breast cancer: ready for clinical translation!

scientific article published on 19 July 2013

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

PALB2: research reaching to clinical outcomes for women with breast cancer

scientific article

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

scientific article published on 12 October 2017

PIK3CA activating mutation in colorectal carcinoma: associations with molecular features and survival

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PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2.

scientific article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

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Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

scientific article published on 17 March 2022

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Penetrance analysis of the PALB2 c.1592delT founder mutation

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Physical Activity, Television Viewing Time, and DNA Methylation in Peripheral Blood

scientific article published on 01 March 2019

Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: results from an Australian population-based case-control study

scientific article

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E.

scientific article

Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study

scientific article published on 01 September 1999

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study

scientific article published on 25 May 2010

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry

scientific article published in November 2006

Postmenopausal Hormone Therapy and Colorectal Cancer Risk by Molecularly Defined Subtypes and Tumor Location

scientific article published on 19 May 2020

Prediagnosis reproductive factors and all-cause mortality for women with breast cancer in the breast cancer family registry

scientific article published on June 2009

Predicting interval and screen-detected breast cancers from mammographic density defined by different brightness thresholds

Prediction and clinical utility of a contralateral breast cancer risk model

scientific article published on 17 December 2019

Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

scientific article published on 25 October 2006

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

scientific article published on 11 April 2020

Prediction of individual genetic risk to prostate cancer using a polygenic score

scientific article published on 14 July 2015

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

scientific article published on 28 February 2013

Primary Cutaneous Ewing??s Sarcoma/Peripheral Primitive Neuroectodermal Tumors in Childhood

Primary cutaneous Ewing's sarcoma/peripheral primitive neuroectodermal tumors in childhood. A molecular, cytogenetic, and immunohistochemical study

scientific article published on 01 September 1995

Prognostic Impact of Total Plasma Cell-free DNA Concentration in Androgen Receptor Pathway Inhibitor-treated Metastatic Castration-resistant Prostate Cancer

scientific article published on 29 July 2020

Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre

scientific article published on 13 August 2013

Prostate cancer segregation analyses using 4390 families from UK and Australian population-based studies

article

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study

scientific article

RAD51B in Familial Breast Cancer

scientific article

RESPONSE: re: HRAS1 rare minisatellite alleles and breast cancer in australian women under age forty years

scientific article published on 01 May 2000

Rare germline copy number variants (CNVs) and breast cancer risk

scientific article published on 18 January 2022

Rare germline genetic variants and risk of aggressive prostate cancer

scientific article published on 27 April 2020

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

scientific article

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

scientific article

Rare mutations in XRCC2 increase the risk of breast cancer

scientific article (publication date: 6 April 2012)

Rare variants in the ATM gene and risk of breast cancer

scientific article published on 25 July 2011

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

scientific article published on 24 September 2009

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

scientific article (publication date: 18 January 2011)

Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer

scientific article published on May 2007

Rationale for, and approach to, studying modifiers of risk in persons with a genetic predisposition to colorectal cancer

Re: Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication.

scientific article published on 11 August 2014

Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk

scientific article published on 02 October 2019

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer

scientific article published in April 2003

Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study

Reliability of DNA methylation measures from dried blood spots and mononuclear cells using the HumanMethylation450k BeadArray

scientific article published on 26 July 2016

Reply

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.

scientific article published on 7 November 2017

Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry

scientific article published on 18 February 2014

Response: Table 1

article by Amanda B. Spurdle et al published 31 August 2016 in Journal of the National Cancer Institute

Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

scientific article published on 2 April 2015

Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status

scientific article published on November 2003

Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry

scientific article published on 25 April 2012

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

scientific article published on 9 November 2017

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

scientific article published on 19 May 2016

Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk

scientific article published on 01 March 2019

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

scientific article published on June 2017

Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

scientific article

SNP rs16906252C>T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer.

scientific article published on 7 June 2016

SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

scientific article published on 22 July 2015

Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

scientific article

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

scientific article

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Should the grading of colorectal adenocarcinoma include microsatellite instability status?

scientific article published on 17 July 2014

Sibship analysis of associations between SNP haplotypes and a continuous trait with application to mammographic density.

scientific article published in May 2010

Smoking and blood DNA methylation: an epigenome-wide association study and assessment of reversibility

scientific article published on 25 September 2019

Socio-economic status and survival from breast cancer for young, Australian, urban women

scientific article published on April 2010

Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis

article published in 2019

Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

scientific article

Spatiotemporally exact cDNA libraries from quail embryos: a resource for studying neural crest development and neurocristopathies.

scientific article published on December 1996

Stanniocalcin 2 is an estrogen-responsive gene coexpressed with the estrogen receptor in human breast cancer.

scientific article published in March 2002

Stochastic epigenetic mutations are associated with risk of breast cancer, lung cancer and mature B-cell neoplasms

scientific article published on 11 August 2020

Strategies for Integrated Analysis of Genetic, Epigenetic, and Gene Expression Variation in Cancer: Addressing the Challenges

scientific article

Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies

scientific article

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

scientific article published on 5 February 2017

Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2013

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

scientific article

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

scientific article

Testing for Gene-Environment Interactions Using a Prospective Family Cohort Design: Body Mass Index in Early and Later Adulthood and Risk of Breast Cancer.

scientific article published on March 2017

The 4q27 locus and prostate cancer risk

scientific article

The AIB1 Polyglutamine Repeat Does Not Modify Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

article

The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women

scientific article

The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis

scientific article published on 15 May 2008

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

scientific article published on 18 March 2008

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.

scientific article

The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.

scientific article

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer

scientific article

The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor

scientific article published on 04 November 2020

The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia

scientific article published on 01 April 2005

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years

scientific article published on 01 October 2003

The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability

scientific article published on 08 July 2020

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

scientific article published on 9 November 2016

The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women

article

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

scientific article published on April 2015

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control study.

scientific article published in March 2007

The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations

scientific article published in December 1998

The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study

scientific article published on 01 December 1998

The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.

scientific article

The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis

scientific article published on 13 September 2008

The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant

article

The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: an example from the Breast Cancer Family Registry

scientific article

The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women.

scientific article

The role of SMAD4 in early-onset colorectal cancer

scientific article published on 27 January 2009

The role of genetic breast cancer susceptibility variants as prognostic factors

scientific article

The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain

article

The rs743572 common variant in the promoter of CYP17A1 is not associated with prostate cancer risk or circulating hormonal levels

scientific article published on 6 November 2007

The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women.

scientific article published in December 2001

The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array

scientific article

The utility of DNA extracted from saliva for genome-wide molecular research platforms.

scientific article published on 8 January 2018

Tools for translational epigenetic studies involving formalin-fixed paraffin-embedded human tissue: applying the Infinium HumanMethyation450 Beadchip assay to large population-based studies

scientific article published on 6 October 2015

Total and beverage-specific alcohol intake and the risk of aggressive prostate cancer: a case-control study

scientific article published on 18 April 2017

Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers

scientific article published on 2 May 2008

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

scientific article published in January 2021

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Transcriptomic changes in peripheral blood mononuclear cells with weight loss: systematic literature review and primary data synthesis

publication published on 19 July 2021

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

scientific article published on 6 June 2016

Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry

scientific article published on 28 August 2012

Tumour morphology predicts PALB2 germline mutation status

scientific article published on 20 June 2013

Twin birth changes DNA methylation of subsequent siblings

scientific article published on 16 August 2017

Two ATM variants and breast cancer risk

scientific article published in June 2005

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer

scientific article published on 13 August 2020

Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case control study.

scientific article

Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study

scientific article published on 01 December 2004

Use of Molecular Tumor Characteristics to Prioritize Mismatch Repair Gene Testing in Early-Onset Colorectal Cancer

article

Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk

scientific article published on 18 August 2016

Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model

scientific article

Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers.

scientific article published on February 2012

Validation study of thelambdamodel for predicting theBRCA1orBRCA2mutation carrier status of North American Ashkenazi Jewish women

article

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility

scientific article published in PLoS ONE

Variants in the Prostate-Specific Antigen (PSA) Gene and Prostate Cancer Risk, Survival, and Circulating PSA

article

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

scientific article

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

scientific article

rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

scientific article published on 21 August 2018

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

scholarly article by Chol-Hee Jung published in October 2018

‘Next-generation’ genome wide association studies

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