Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

FJ Couch, X Wang, L McGuffog, A Lee, C Olswold… - PLoS …, 2013 - journals.plos.org
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic
variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of …

[HTML][HTML] Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers

RL Milne, AC Antoniou - Annals of oncology, 2011 - Elsevier
Germline mutations in BRCA1 and BRCA2 confer high risks of female breast and ovarian
cancer. However, there is strong evidence that these risks are modified by other factors …

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

KB Kuchenbaecker, L McGuffog… - JNCI: Journal of the …, 2017 - academic.oup.com
Background Genome-wide association studies (GWAS) have identified 94 common single-
nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 …

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

RM Brohet, ME Velthuizen, FBL Hogervorst… - Journal of medical …, 2014 - jmg.bmj.com
Background BRCA1 or BRCA2 mutations confer increased risks of breast and ovarian
cancer, but risks have been found to vary across studies and populations. Methods We …

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

MM Gaudet, KB Kuchenbaecker, J Vijai, RJ Klein… - PLoS …, 2013 - journals.plos.org
Common genetic variants contribute to the observed variation in breast cancer risk for
BRCA2 mutation carriers; those known to date have all been found through population …

Classification of BRCA1 missense variants of unknown clinical significance

CM Phelan, V Đapić, B Tice, R Favis, E Kwan… - Journal of medical …, 2005 - jmg.bmj.com
Background: BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in
BRCA1 are responsible for a large proportion of breast–ovarian cancer families. Several …

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 …

AC Antoniou, X Wang, ZS Fredericksen, L McGuffog… - Nature …, 2010 - nature.com
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …

Variation in BRCA1 Cancer Risks by Mutation Position

D Thompson, D Easton… - … Biomarkers & Prevention, 2002 - AACR
Previous studies have reported variation in BRCA1 breast and ovarian cancer risks with
mutation position, suggesting that mutations toward the 3′ end of the gene are associated …

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

AB Spurdle, PJ Whiley, B Thompson, B Feng… - Journal of medical …, 2012 - jmg.bmj.com
Background Clinical classification of rare sequence changes identified in the breast cancer
susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of …

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

DR Barnes, MA Rookus, L McGuffog, G Leslie… - Genetics in …, 2020 - nature.com
Purpose We assessed the associations between population-based polygenic risk scores
(PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and …