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List of works by Amanda Spurdle

A BRCA1 promoter variant (rs11655505) and breast cancer risk

scientific article published in April 2010

A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding

scientific article published on June 2016

A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival

scientific article

A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate 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 functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome

scientific article published on 03 December 2018

A genetic risk score to guide age-specific, personalized prostate cancer screening

A genetic risk score to personalize prostate cancer screening, applied to population data

scientific article published on 24 June 2020

A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer

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 to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

scientific article

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

scientific article published on 11 October 2012

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 corepressor, BCoR-L1, represses transcription through an interaction with CtBP.

scientific article published on 22 March 2007

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

scientific article published on 01 July 2019

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

A quantitative model to predict pathogenicity of missense variants in the TP53 gene

scientific article published on 18 March 2019

A replication study examining novel common single nucleotide polymorphisms identified through a prostate cancer genome-wide association study in a Japanese population

scientific article published on 15 November 2011

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

scientific article published on 26 July 2014

ABCB1 (MDR 1) polymorphisms and progression-free survival among women with ovarian cancer following paclitaxel/carboplatin chemotherapy.

scientific article published in September 2008

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

scientific article published on July 2007

Abstract 2167: Infertility and risk of incident endometrial carcinoma: a pooled analysis from the Epidemiology of Endometrial Cancer Consortium

article

Abstract 32: Lynch syndrome-associated breast cancers: Clinicopathological characteristics of a case series from the Colon CFR

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

scientific article

Age at last birth in relation to risk of endometrial cancer: pooled analysis in the epidemiology of endometrial cancer consortium

scientific article

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

scientific article

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

scientific article published on 19 March 2019

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci

scientific article published on 26 September 2019

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

scientific article

Androgen receptor exon 1 cag repeat length and risk of ovarian cancer

article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

Aspirin, nonsteroidal anti-inflammatory drugs, paracetamol and risk of endometrial cancer: a case-control study, systematic review and meta-analysis

scientific article published on 27 July 2012

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

scientific article published on 30 April 2016

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 Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

scientific article published on 23 August 2019

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

scientific article published on 28 January 2020

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

scientific article published on 03 July 2020

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

scientific article

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

scientific article published on 23 February 2017

Association between Prostinogen (KLK15) genetic variants and prostate cancer risk and aggressiveness in Australia and a meta-analysis of GWAS data

scientific article

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population.

scientific article published on 28 February 2015

Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.

scientific article published on December 2007

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 a common AKAP9 variant with breast cancer risk: a collaborative analysis

scientific article published on 11 March 2008

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

scientific article published on 10 September 2020

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

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

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

scientific article published on 7 April 2016

BCoR-L1 variation and breast cancer

scientific article

BRAF polymorphisms and the risk of ovarian cancer of low malignant potential

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

scientific article published on 26 December 2018

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

scientific article

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

scientific article published on 07 July 2015

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression

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 arg372hispolymorphism and epithelial ovarian cancer risk

article

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance

scientific article

Biomarkers in women's cancers, gynecology, and obstetrics

scientific article

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 susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study

scientific article published on 30 September 2011

Breastfeeding and Endometrial Cancer Risk: An Analysis From the Epidemiology of Endometrial Cancer Consortium

scientific article published on 5 May 2017

CHEK2, MGMT, SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk

scientific article

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

CYP17 promotor polymorphism and ovarian cancer risk

scientific article published on 01 May 2000

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

scientific article

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

scientific article

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

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

Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes

scientific article published on 01 August 2019

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

scientific article published on 19 July 2011

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

scientific article published on 19 December 2019

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

scientific article published on May 2009

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

article

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)

scientific article

Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models

scientific article published on 22 April 2010

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

scientific article published on 15 February 2018

Co-existence of leiomyomas, adenomyosis and endometriosis in women with endometrial cancer

scientific article published on 27 February 2020

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants

scientific article published on 26 September 2007

Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance.

scientific article published on 12 April 2012

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 Polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not Associated with Breast Cancer Risk

scientific article published on 01 July 2005

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

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-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

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 in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

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

scientific article

Common variation in Kallikrein genes KLK5, KLK6, KLK12, and KLK13 and risk of prostate cancer and tumor aggressiveness

article

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

scientific article

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

scientific article published on 19 November 2019

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

scientific article published on 25 February 2014

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

scientific article published in October 2015

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

scientific article

Considerations in assessing germline variant pathogenicity using cosegregation analysis

scientific article published on 10 August 2020

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

scientific article published on 27 July 2020

Correction: BCoR-L1 variation and breast cancer.

scientific article published on 21 October 2008

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: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on 01 January 2019

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification.

scientific article published on March 2012

Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

scientific article published on 03 November 2020

Current mismatch repair deficiency tumor testing practices and capabilities: A survey of Australian pathology providers

article

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome

article

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

scientific article published on 4 January 2016

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

scientific article published on 8 March 2011

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

scientific article

Dietary inflammatory index, risk and survival among women with endometrial cancer

scientific article published on 10 December 2019

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53

scientific article published on 16 January 2020

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

article

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

scientific article published on 3 November 2011

ER and PR expression and survival after endometrial cancer

scientific article

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

scientific article

Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing

scientific article

Endometrial cancer risk and survival by tumor MMR status.

scientific article

Endometrial tumour BRAF mutations and MLH1 promoter methylation as predictors of germline mismatch repair gene mutation status: a literature review

scientific article published on March 2014

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

scholarly article published in Nature Genetics

Erratum: Validating genetic risk associations for ovarian cancer through the International Ovarian Cancer Association Consortium

scholarly article published in British Journal of Cancer

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

article

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

scientific article

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 a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"

scientific article

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

scientific article

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

scientific article

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis

scientific article

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

scientific article published on 27 March 2013

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.

scientific article

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

scientific article published on 09 March 2022

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression

scientific article published on 27 March 2013

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.

scientific article

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 the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

scientific article

Five endometrial cancer risk loci identified through genome-wide association analysis

scientific article published on 02 May 2016

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

scientific article

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

scientific article published on 3 April 2018

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

article

GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer

scientific article published on 23 March 2016

Generating high-quality data abstractions from scanned clinical records: text-mining-assisted extraction of endometrial carcinoma pathology features as proof of principle

scientific article published on 11 June 2020

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

scientific article published on 22 August 2016

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) C

scientific article published on 26 October 2018

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 Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

article

Genetic association of the KLK4 locus with risk of prostate cancer

scientific article

Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes

scientific article published on 24 September 2020

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

scientific article

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

scientific article published on 2 April 2018

Genetic variants in ER cofactor genes and endometrial cancer risk

scientific article

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article published on 27 May 2005

Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future Directions

scientific article published on 30 April 2019

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

article

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

scientific article

Genome-wide association study identifies a possible susceptibility locus for endometrial cancer

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 endometrial cancer in E2C2

scientific article (publication date: February 2014)

Genome-wide association study of prostate cancer-specific survival

scientific article published on 25 August 2015

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

Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing

scientific article published on 11 September 2020

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

scientific article

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls

scientific article published on 01 April 2020

Germline and Tumor Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome

scientific article published on 28 December 2020

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

scientific article

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

scientific article published in Nature Communications

Glycemic index, glycemic load and endometrial cancer risk: results from the Australian National Endometrial Cancer study and an updated systematic review and meta-analysis

scientific article published on 22 May 2012

Gynecological conditions and the risk of endometrial cancer

scientific article published on 16 September 2011

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

scientific article

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

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

scientific article

High-throughput interrogation of PIK3CA, PTEN, KRAS, FBXW7 and TP53 mutations in primary endometrial carcinoma

scientific article published on 4 December 2012

Human papillomavirus DNA detected in peripheral blood samples from healthy Australian male blood donors.

scientific article

Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1

article

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

scientific article

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

scientific article

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

scientific article

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 prostate cancer susceptibility variant in the KLK3 gene transcript

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 October 2017

Impact of weight change and weight cycling on risk of different subtypes of endometrial cancer

scientific article published on 11 April 2013

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility

scientific article published on 09 November 2020

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants

scientific article published on 05 June 2018

Improving identification of lynch syndrome patients: a comparison of research data with clinical records

scientific article

Incidence, Risk Factors, and Estimates of a Woman’s Risk for Developing Secondary Lower Limb Lymphedema and Lymphedema-Specific Supportive Care Needs in Women Treated for Endometrial Cancer

article

Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb lymphedema and lymphedema-specific supportive care needs in women treated for endometrial cancer

article

Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2).

scientific article published on 17 February 2015

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

scientific article

Intrauterine devices and endometrial cancer risk: a pooled analysis of the Epidemiology of Endometrial Cancer Consortium

scientific article published on 30 September 2014

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

scientific article

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

scientific article

Kallikrein-related peptidase 10 (KLK10) expression and single nucleotide polymorphisms in ovarian cancer survival

scientific article published on May 2010

Kallikrein-related peptidase 3 (KLK3/PSA) single nucleotide polymorphisms and ovarian cancer survival

scientific article published in August 2011

Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in australia

scientific article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Letter to the editor re: "Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?" from T. Song and colleagues

scientific article published on 02 December 2015

Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers

scientific article

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

scientific article

Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals

scientific article published on February 2005

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

scientific article

Lynch syndrome in women less than 50 years of age with endometrial cancer

scientific article published on 01 October 2008

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry

scientific article published on 9 March 2010

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

scientific article published on 13 July 2020

Meta-analysis of gene expression studies in endometrial cancer identifies gene expression profiles associated with aggressive disease and patient outcome.

scientific article

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

Microsatellite instability use in mismatch repair gene sequence variant classification

scientific article published on 30 March 2015

Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

scientific article

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

scientific article

Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers

scientific article published on 07 July 2009

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

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

Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients

scientific article published on 29 February 2008

More on Co-Occurrence of COMT and BRCA1/2 Variants in a Population

scientific article published in August 2017

Most common 'sporadic' cancers have a significant germline genetic component

scientific article published on 18 June 2014

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

scientific article published on 28 January 2014

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 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 FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer

scientific article

Mutation analysis of five candidate genes in familial breast cancer

scientific article

Mutation deep within an intron of MSH2 causes Lynch syndrome

scientific article

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

scientific article published on 15 February 2018

Mutations in the human mannose-binding protein gene: frequencies in several population groups

scientific article published in January 1996

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

scientific article published on 28 November 2017

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

scientific article published on 8 April 2016

New TaqI allele detected by X-chromosome probe s21 (DXS17).

scientific article published in May 1990

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

scientific article published on 29 March 2009

No association between FTO or HHEX and endometrial cancer risk

scientific article

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

scientific article published on 04 June 2008

No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women

scientific article published on 17 December 2010

No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

scientific article

No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 10 June 2008

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer

scientific article published in May 2001

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published in November 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 September 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 February 2020

Number of X-linked androgen receptor gene CAG repeats and femininity in women

article

Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females

scientific article

Ovarian cancer survival and polymorphisms in hormone and DNA repair pathway genes

scientific article published on 19 December 2006

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

scientific article

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

scientific article published in December 2016

PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility

scientific article published on 6 December 2006

Pancreatic cancer and a novel MSH2 germline alteration

scientific article

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

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

scientific article

Polycystic ovary syndrome increases the risk of endometrial cancer in women aged less than 50 years: an Australian case-control study

scientific article published on 17 October 2010

Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts

scientific article published on 10 January 2018

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 at the glutathione S-transferase GSTM1, GSTT1 and GSTP1 loci: risk of ovarian cancer by histological subtype

scientific article

Polymorphisms in inflammation pathway genes and endometrial cancer risk

scientific article published on 5 December 2012

Polymorphisms in the FGF2 gene and risk of serous ovarian cancer: results from the ovarian cancer association consortium

scientific article

Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

Possible genetic predisposition to lymphedema after breast cancer

scientific article published on 9 March 2012

Prediction and assessment of splicing alterations: implications for clinical testing

scientific article

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 individual genetic risk to prostate cancer using a polygenic score

scientific article published on 14 July 2015

Pregnancy Outcomes and Risk of Endometrial Cancer: A Pooled Analysis of Individual Participant Data in the Epidemiology of Endometrial Cancer Consortium

scientific article published on 26 October 2020

Prenatal diagnosis for huntington's disease: A molecular and psychological study ⬇️

scientific article published on March 1, 1991

Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies

scientific article published on January 1995

Prioritizing candidate genetic modifiers of BRCA1 and BRCA2 using a combinatorial analysis of global expression and polymorphism association studies of breast cancer

scientific article published on January 2010

Progesterone receptor gene variants and risk of endometrial cancer

scientific article

Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies

article

Progesterone receptor promoter +331A polymorphism is associated with a reduced risk of endometrioid and clear cell ovarian cancers.

scientific article published in December 2004

Prohibitin 3′ untranslated region polymorphism and breast cancer risk in Australian women

scientific article published in The Lancet

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

scientific article published on 23 September 2019

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2019

Quantifying and mRNA Isoform Expression Levels in Single Cells

scholarly article

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007

RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women

article

ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target

scientific article published on 17 August 2020

Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition

scientific article published on 9 November 2014

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

scientific article published on 18 January 2022

Rare variants in the ATM gene and risk of breast cancer

scientific article published on 25 July 2011

Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption

scientific article published on 20 January 2022

Re: Excess of early onset multiple myeloma in endometrial cancer probands and their relatives suggests common susceptibility

scientific article published on 29 January 2008

Referral of Queensland women with endometrial cancer to genetic services.

scientific article

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

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

Reply to J. Moline et al

scientific article published on 09 June 2014

Report of Endometrial Cancer in Australian BRCA1 and BRCA2 mutation-positive Families.

scientific article published in April 2011

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 and prognostic factors for endometrial carcinoma after diagnosis of breast or Lynch-associated cancers-A population-based analysis

scientific article published on 28 November 2018

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

scientific article published on 30 June 2009

Season of birth and risk of endometrial cancer

scientific article published on January 1, 2011

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

scientific article

Serum HE4 as a prognostic marker in endometrial cancer--a population based study

scientific article published on 6 November 2013

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

Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.

scientific article published on 28 October 2008

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

scientific article published on 01 November 2018

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

scientific article published on 10 December 2020

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

scientific article

Stability of BAT26 in Lynch syndrome colorectal tumours

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

scientific article published on 13 August 2018

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

scientific article published on 02 June 2020

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

article

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

article

The Association of CYP19A1 Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can CYP19A1 Variants Be Used to Predict Treatment Efficacy?

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 BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017

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 CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer

article

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

scientific article published on 08 July 2020

The MnSOD Val9Ala polymorphism, dietary antioxidant intake, risk and survival in ovarian cancer (Australia).

scientific article published on 22 October 2007

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

scientific article published on 03 October 2016

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

article

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 25 August 2009

The Y Alu polymorphism in southern African populations and its relationship to other Y-specific polymorphisms

scientific article (publication date: February 1994)

The Y chromosome as a tool for studying human evolution

scientific article published on June 1992

The Y-associated XY275 low allele is not restricted to indigenous African peoples ⬇️

scientific article published on June 1, 1992

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

scientific article

The effect of sample size on polygenic hazard models for prostate cancer

scientific article published on 08 June 2020

The high frequency of the Hb B2 variant in the Herero population: a founder effect?

scientific article

The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia

scientific article

The inverted Y-chromosome polymorphism in the Gujarati Muslim Indian population of South Africa has a single origin

scientific article published on January 1, 1992

The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressiveness

scientific article

The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovarian cancer.

scientific article published in January 2001

The obesity-associated polymorphisms FTO rs9939609 and MC4R rs17782313 and endometrial cancer risk in non-Hispanic white women

scientific article (publication date: 8 February 2011)

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

scientific article

The prohibitin 3′ untranslated region polymorphism is not associated with risk of ovarian cancer

scientific article published on 01 July 2003

The role of glutathione-S-transferase polymorphisms in ovarian cancer survival

scientific article

The search for Y chromosome polymorphism is extended to negroids

scientific article published on June 1, 1992

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 predictive or prognostic genetic biomarkers in endometrial and other hormone-related cancers: justification for extensive candidate gene single nucleotide polymorphism studies of the matrix metalloproteinase family and their inhibitors

scientific article published on September 2009

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

scientific article published on 08 April 2019

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

scientific article published on 01 March 2020

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

scientific article

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

scientific article

Two ATM variants and breast cancer risk

scientific article published in June 2005

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

scientific article published on 22 January 2020

Type I and II endometrial cancers: have they different risk factors?

scientific article published on 03 June 2013

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients

scientific article published on 28 October 2020

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

scientific article

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers

scientific article

Use of talcum powder and endometrial cancer risk

scientific article published on 14 January 2012

Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium

scientific article published on 06 January 2009

Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars

scientific article published on 05 July 2020

Variation in the RAD51 gene and familial breast cancer

scientific article

Vascular endothelial growth factor gene polymorphisms and ovarian cancer survival

scientific article published in December 2010

XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome

scientific article

Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations.

scientific article

p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients

scientific article published on 06 June 2019

pDP1007, detects an X polymorphism with HindIII in negroids at the ZFX locus

scientific article published in June 1990

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