ArticlePLoS genetics2013
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 164 papers, 8 of them syntheses that pooled it.
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Who cites it
164 citing papers in PubMed, 8 syntheses or guidelines pooled it, 390 citations in OpenAlex.
- Clinical and prognostic significance of parathyroid hormone-related protein in breast cancer: a systematic review and meta-analyses of observational studies in women.Endocrine-related cancer · 2026Pooled it
- New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders.Nature human behaviour · 2019Pooled it
- Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs.Scientific reports · 2018Pooled it
- Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.PLoS genetics · 2017Pooled it
- Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Nature genetics · 2016Pooled it
- Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.PloS one · 2016Pooled it
- Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Pooled it
- Identification of six new susceptibility loci for invasive epithelial ovarian cancer.Nature genetics · 2015Pooled it
- Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.Scientific reports · 2020Trial
- Impact of a Panel of 88 Single Nucleotide Polymorphisms on the Risk of Breast Cancer in High-Risk Women: Results From Two Randomized Tamoxifen Prevention Trials.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2017Trial
- Genome-wide association study in East Asians identifies two novel breast cancer susceptibility loci.Human molecular genetics · 2016Trial
- Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.Human genetics · 2015Trial
- Review
- Tyrer-Cuzick Lifetime Risk Is Not Associated With Non-BRCA1/2 Pathogenic Variants for Breast Carcinoma.The breast journal · 2026Article
- Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.NPJ genomic medicine · 2025Article
- Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers.NPJ breast cancer · 2025Article
- An Investigation of theMedical sciences (Basel, Switzerland) · 2025Article
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- Genome-wide association studies are enriched for interacting genes.BioData mining · 2025Article
- Genome wide association studies are enriched for interacting genes.Research square · 2024Article
104 more citing papers are in PubMed but not listed here.
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Authors and funding
270 authors at 20 institutions in 26 countries.
Funding
Abstract
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 further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 × 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.
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