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List of works by Antonis C Antoniou

A New Comprehensive Colorectal Cancer Risk Prediction Model Incorporating Family History, Personal Characteristics, and Environmental Factors

scientific article published on 13 January 2020

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

article

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes

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 multi-center study to evaluate the impact of germline BRCA1 and BRCA2 mutations on ovarian cancer survival.

scientific article

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 response to "Personalised medicine and population health: breast and ovarian cancer"

scientific article published on 27 February 2019

A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact

scientific article published on 18 July 2011

A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects

scientific article published on 29 May 2015

A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes

scientific article published on 01 July 2005

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

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

scientific article published on 19 September 2019

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

scientific article

Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study

scientific article published in April 2007

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, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

scientific article published on 02 December 2019

An autosome-wide scan for linkage disequilibrium-based association in sporadic breast cancer cases in eastern Finland: three candidate regions found

scientific article published on 01 January 2005

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

scientific article published on September 2008

An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)

scientific article

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

Assessing and managing breast cancer risk: clinicians' current practice and future needs

scientific article published on 4 July 2014

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

scientific article

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

scientific article

Association between KRAS rs61764370 and triple-negative breast cancer--a false positive?

scientific article published on 01 August 2011

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

scientific article published on 13 November 2019

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

scientific article

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 tamoxifen use and reduced risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

scientific article published on 12 April 2012

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

scientific article published on 31 December 2014

Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer. ⬇️

scientific article

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

scientific article

BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface

scientific article published on 17 December 2013

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

scientific article published on 15 January 2019

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

scientific article published on 26 December 2018

BRCA1 and BRCA2 Cancer Risks

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

scientific article published on 03 July 2019

BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families

scientific article

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

article published in 2006

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

scientific article

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

scientific article published on 27 November 2013

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

scientific article published in July 2005

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 in women with PALB2 mutations in different populations

scientific article published on 01 August 2015

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 risks for BRCA1/2 carriers

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-Cancer Risk in Families with Mutations in PALB2

scientific article published on 01 October 2014

Breast-cancer risk in families with mutations in PALB2

scientific article

CanRisk Tool - A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants

scientific article published on 17 December 2020

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

scientific article published on 16 December 2019

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

scientific article

Candidate Causal Variants at the 8p12 Breast Cancer Risk Locus Regulate DUSP4

scientific article published on 10 January 2020

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

scientific article

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

scientific article published on 24 March 2015

Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses

scientific article published on 23 April 2021

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

Chromatin interactome mapping at 139 independent breast cancer risk signals

scientific article published on 07 January 2020

Clinical software development for the Web: lessons learned from the BOADICEA project ⬇️

scientific article published on April 10, 2012

Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

scientific article published on 5 March 2018

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

Commentary on changing the risk threshold for surgical prevention of ovarian cancer

scientific article published on 26 May 2017

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 cancer risk in Mendelian cancer syndromes

scientific article published on June 2010

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

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

scientific article

Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France

scientific article published on 01 August 2005

Correction to: Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

scientific article published on 01 October 2019

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

scientific article published on 26 February 2020

Correction: BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

scientific article published on 01 June 2019

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

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

Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries. ⬇️

scientific article published on 25 October 2017

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

scientific article published on 17 December 2015

Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women

scientific article published on 26 December 2017

Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women

scientific article published on 18 January 2018

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry

scientific article

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

scientific article published on 5 April 2018

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

scientific article

Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer

scientific article published on 6 November 2014

Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group

scientific article published on 26 June 2006

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

scientific article

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

scientific article published on 20 December 2018

Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer

scientific article

European polygenic risk score for prediction of breast cancer shows similar performance in Asian women

scientific article published on 31 July 2020

Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: A multi-methods study

scientific article published on 06 March 2020

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consorti

scientific article published on 06 April 2013

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

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 association methods for analysing modifiers of disease risk in carriers of high-risk mutations

scientific article published in April 2012

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 polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study

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 for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study

scientific article published on 01 July 2001

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

External validation of risk prediction models incorporating common genetic variants for incident colorectal cancer using UK Biobank

scientific article published on 18 February 2020

Familial relative risks for breast cancer by pathological subtype: a population-based cohort study

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

scientific article

Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease

scientific article published on 20 February 2014

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

scientific article published on 7 September 2016

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

scientific article

Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy.

scientific article published on 11 August 2016

Genetic models for the familial aggregation of mammographic breast density

scientific article published on 31 March 2009

Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers ⬇️

scientific article published on January 1, 2011

Genetic susceptibility to breast cancer

scientific article published on 21 May 2010

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

scientific article

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

article

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 in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer

scientific article

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

scientific article published on 27 August 2015

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer

scientific article

Germline mutations in RAD51D confer susceptibility to ovarian cancer

scientific article (publication date: 7 August 2011)

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia

scientific article published on 20 October 2011

Homeobox B13 G84E Mutation and Prostate Cancer Risk

scientific article published on 08 December 2018

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

scientific article

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

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 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

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

Immune Cell Associations with Cancer Risk

scientific article published on 20 June 2020

Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model

scientific article published on 14 April 2016

Incorporating tumour pathology information into breast cancer risk prediction algorithms

scientific article

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

scientific article

Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia

scientific article published on 9 October 2017

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

scientific article

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

Letter to the editor: a response to Ming's study on machine learning techniques for personalized breast cancer risk prediction

scientific article published on 10 February 2020

Low-dose ionizing radiation significantly increases the risk of breast cancer among BRCA1/2 mutation carriers in the International BRCA1/2 Carrier Cohort Study (IBCCS).

scientific article

Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status

scientific article

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

scientific article

Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published in February 2006

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

scientific article published on 07 January 2019

Models of genetic susceptibility to breast cancer

scientific article published on September 2006

Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes

scientific article

Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers

scientific article

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

scientific article

Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations

scientific article published in August 1998

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

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

scientific article published on 15 February 2018

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 clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

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

Non-coding RNAs underlie genetic predisposition to breast cancer

scientific article published on 07 January 2020

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 contraceptives and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

scientific article

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

scientific article published on 28 February 2020

Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants

scientific article

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

scientific article

Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers

scientific article published on January 2006

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

Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers

scientific article published on 29 December 2020

Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial

scientific article published on 31 May 2022

Personalized early detection and prevention of breast cancer: ENVISION consensus statement

scientific article published on 18 June 2020

Polygenes, risk prediction, and targeted prevention of breast cancer

scientific article published on 01 June 2008

Polygenic Inherited Predisposition to Breast Cancer

article published in 2005

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

scientific article

Polygenic inheritance of breast cancer: Implications for design of association studies ⬇️

scientific article published on 01 November 2003

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

Polygenic susceptibility to breast cancer and implications for prevention

scientific article published on 04 March 2002

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 Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention

scientific article published on 15 May 2020

Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

scientific article

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

scientific article

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

scientific article

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

scientific article

Prevalence of the HOXB13 G84E germline mutation in British men and correlation with prostate cancer risk, tumour characteristics and clinical outcomes

scientific article published on 16 January 2015

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 Risk by BRCA2 Genomic Regions

scientific article published on 09 June 2020

Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

scientific article published on 06 September 2019

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

article

Publisher Correction: Personalized early detection and prevention of breast cancer: ENVISION consensus statement

scientific article published on 29 June 2020

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

scientific article published on 23 September 2019

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

Rare coding variants and X-linked loci associated with age at menarche

scientific article

Re: On the use of familial aggregation in population-based case probands for calculating penetrance

scientific article published in January 2003

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

Refining Breast Cancer Risk Stratification: Additional Genes, Additional Information

scientific article

Reply: Remarks on the BOADICEA model of genetic susceptibility to breast and ovarian Cancer Research UK

scientific article published on 22 March 2005

Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study

scientific article

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 Prediction Models for Colorectal Cancer Incorporating Common Genetic Variants: A Systematic Review

scientific article published on 10 July 2019

Risk models for familial ovarian and breast cancer

scientific article published on 01 February 2000

Risk prediction models for familial breast cancer

scientific article

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

scientific article published on 16 January 2020

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

scientific article published on June 2017

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

scientific article published on 22 March 2018

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Specifying the ovarian cancer risk threshold of 'premenopausal risk-reducing salpingo-oophorectomy' for ovarian cancer prevention: a cost-effectiveness analysis

scientific article published on 27 June 2016

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

scientific article published on 05 August 2013

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

article

The BOADICEA model of genetic susceptibility to breast and ovarian cancer

scientific article published on October 2004

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

scientific article published on 20 February 2018

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

scientific article published on 01 November 2019

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With or Mutations

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article published on 03 October 2016

The PROFILE Feasibility Study: Targeted Screening of Men With a Family History of Prostate Cancer

scientific article published on 05 May 2016

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

scientific article

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

scientific article published in May 2008

The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes

scientific article

The iPrevent Online Breast Cancer Risk Assessment and Risk Management Tool: Usability and Acceptability Testing

scientific article published on 07 November 2018

The iPrevent Online Breast Cancer Risk Assessment and Risk Management Tool: Usability and Acceptability Testing. (Preprint)

preprint

The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2

scientific article published on 01 March 2000

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

scientific article published on 8 March 2011

The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

scientific article published on 12 July 2011

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

Transitioning to routine breast cancer risk assessment and management in primary care: what can we learn from cardiovascular disease?

scientific article published on 24 February 2015

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

scientific article published on 31 January 2018

Two ATM variants and breast cancer risk

scientific article published in June 2005

Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers

scientific article published on April 2012

Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

scientific article published on 16 June 2017

Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort

scientific article published on 06 July 2020

Variants in DNA double-strand break repair genes and breast cancer susceptibility

scientific article

iPrevent®: a tailored, web-based, decision support tool for breast cancer risk assessment and management

scientific article published on 24 February 2016

pedigreejs: a web-based graphical pedigree editor

scientific article published on 31 October 2017

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