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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
(2018-05)
Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ...
RAD51B in Familial Breast Cancer.
(PUBLIC LIBRARY SCIENCE, 2016-05-05)
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study ...
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
(IMPACT JOURNALS LLC, 2017-11-28)
Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent ...
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
(IMPACT JOURNALS LLC, 2016-12-06)
There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory ...
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
(PUBLIC LIBRARY SCIENCE, 2016-08-24)
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ...
Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk.
(OXFORD UNIV PRESS INC, 2021-03-01)
We evaluated the joint associations between a new 313-variant PRS (PRS313) and questionnaire-based breast cancer risk factors for women of European ancestry, using 72 284 cases and 80 354 controls from the Breast Cancer ...
Common variants in breast cancer risk loci predispose to distinct tumor subtypes.
(BMC, 2022-01-04)
BACKGROUND: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these ...
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
(NATURE PUBLISHING GROUP, 2018-07-01)
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify ...
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
(CELL PRESS, 2019-01-03)
Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen ...
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
(NATURE PUBLISHING GROUP, 2017-05-01)
PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with ...