ArticleHuman molecular genetics2011
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
16 citing papers in PubMed, 42 citations in OpenAlex.
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America.Biological research · 2024Article
- Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis.Scientific reports · 2024Article
- Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.Genetics and molecular biology · 2022Article
- Article
- BRCA1 subcellular localization regulated by PI3K signaling pathway in triple-negative breast cancer MDA-MB-231 cells and hormone-sensitive T47D cells.Open life sciences · 2020Article
- The diagnostic value of combined detection of genetic markers and serum protein markers on breast cancer.Saudi journal of biological sciences · 2019Article
- A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci.BMC cancer · 2018Article
- New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families.Cancer biomarkers : section A of Disease markers · 2017Article
- Article
- Ten modifiers of BRCA1 penetrance validated in a Norwegian series.Hereditary cancer in clinical practice · 2015Article
- gDNA enrichment by a transposase-based technology for NGS analysis of the whole sequence of BRCA1, BRCA2, and 9 genes involved in DNA damage repair.Journal of visualized experiments : JoVE · 2014Article
- Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.Familial cancer · 2013Article
- BRCA1 polymorphisms and breast cancer epidemiology in the Western New York exposures and breast cancer (WEB) study.Genetic epidemiology · 2013Article
- BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.Journal of medical genetics · 2012Article
- Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.Breast cancer research : BCR · 2012Article
Corrections and comments
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Authors and funding
116 authors at 20 institutions in 16 countries.
Funding
Abstract
Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations. A total of 9874 BRCA1 mutation carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003). Promoter in vitro assays of the major BRCA1 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription.
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