Now showing items 1-4 of 4

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

(2012-04-18)
Abstract Introduction Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type ...
• #### Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers ﻿

(2010-11-29)
Abstract Introduction Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide ...
• #### Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers ﻿

(Public Library of Science, 2016-07-27)
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ mutation ...
• #### Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. ﻿

(Wiley-Blackwell, 2018-05)
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians in Europe and North America. The Consortium of Investigators ...