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UnknownFine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
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 BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mut...
S-EPMC4963094 | biostudies-literature
UnknownCopy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these r...
S-EPMC9537519 | biostudies-literature
UnknownAssociation 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.

Purpose

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 whether common variants associated with DAE were involved in breast cancer susceptibility amon...
S-EPMC5222911 | biostudies-literature
UnknownAssociation of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Importance

Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.

Objective

To identify mutation-specific cancer risks for carriers of BRCA1/2.

Design, setting, and participants

Observational study of women who ...
S-EPMC4537700 | biostudies-literature
UnknownMutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 m...
S-EPMC5903938 | biostudies-literature
UnknownCorrection: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Not available
S-EPMC9090804 | biostudies-literature
UnknownIdentification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 ...
S-EPMC5808456 | biostudies-literature
UnknownA case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variant...
S-EPMC7890067 | biostudies-literature
UnknownIdentification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC ...
S-EPMC5612337 | biostudies-literature
UnknownNo clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Objective

Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing ...
S-EPMC4630206 | biostudies-literature
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