Now showing items 1-6 of 6

• #### 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. ﻿

(Springer, 2017-01)
$\textit{Purpose}$ $\textit{Cis}$-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate ...
• #### 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 ...
• #### Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus ﻿

(BioMed Central, 2016)
Background Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method We performed a fine-scale ...
• #### Identification of six new susceptibility loci for invasive epithelial ovarian cancer ﻿

(2015-01-12)
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high ...
• #### 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 ...