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UnknownA nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Background

We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and wer...
S-EPMC3415567 | biostudies-literature
UnknownCommon variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Background

Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these...
S-EPMC3319317 | biostudies-literature
UnknownIdentification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.

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 mapping study of a 700 kb region including 441 genotyped and more...
S-EPMC4962376 | biostudies-literature
UnknownBreast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or...
S-EPMC4938803 | 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
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
UnknownGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
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 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a furthe...
S-EPMC3609646 | biostudies-literature
UnknownIdentification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, w...
S-EPMC4853421 | 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
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