ArticleAmerican journal of human genetics2007
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 135 papers, 7 of them syntheses that pooled it.
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Who cites it
135 citing papers in PubMed, 7 syntheses or guidelines pooled it, 242 citations in OpenAlex.
- Association Between Seven Selected Genetic Polymorphisms in DNA Repair-Related Genes and Breast Cancer Risk: Evidence from a Comprehensive Meta-analysis Including 96 Studies.Biochemical genetics · 2026Pooled it
- RAD51 135G>C substitution increases breast cancer risk in an ethnic-specific manner: a meta-analysis on 21,236 cases and 19,407 controls.Scientific reports · 2015Pooled it
- Identification of six new susceptibility loci for invasive epithelial ovarian cancer.Nature genetics · 2015Pooled it
- Genetic 135G/C polymorphism of RAD51 gene and risk of cancer: a meta-analysis of 28,956 cases and 28,372 controls.Familial cancer · 2014Pooled it
- Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis.Journal of the National Cancer Institute · 2014Pooled it
- Pooled it
- Association between the RAD51 135 G>C polymorphism and risk of cancer: a meta-analysis of 19,068 cases and 22,630 controls.PloS one · 2013Pooled it
- The RAD51 135G>C polymorphism is related to the effect of adjuvant therapy in early breast cancer.Journal of cancer research and clinical oncology · 2015Trial
- Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer.NPJ breast cancer · 2025Article
- Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.NPJ genomic medicine · 2025Article
- Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.Hereditary cancer in clinical practice · 2025Review
- The influence of RAD51 (rs1801320) on breast cancer risk: an updated meta-analysis.Discover oncology · 2025Article
- Article
- TGFBR1*6A as a modifier of breast cancer risk and progression: advances and future prospects.NPJ breast cancer · 2022Review
- Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.Journal of the National Cancer Institute · 2022Article
- Fanconi Anaemia, Childhood Cancer and theGenes · 2021Review
- Multigene assessment of genetic risk for women for two or more breast cancers.Breast cancer research and treatment · 2021Article
- Association of RAD51 and XRCC2 Gene Polymorphisms with Cervical Cancer Risk in the Bangladeshi Women.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Article
- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.Nature communications · 2021Article
75 more citing papers are in PubMed but not listed here.
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Authors and funding
84 authors at 1 institution in 1 country.
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Abstract
RAD51 is an important component of double-stranded DNA-repair mechanisms that interacts with both BRCA1 and BRCA2. A single-nucleotide polymorphism (SNP) in the 5' untranslated region (UTR) of RAD51, 135G-->C, has been suggested as a possible modifier of breast cancer risk in BRCA1 and BRCA2 mutation carriers. We pooled genotype data for 8,512 female mutation carriers from 19 studies for the RAD51 135G-->C SNP. We found evidence of an increased breast cancer risk in CC homozygotes (hazard ratio [HR] 1.92 [95% confidence interval {CI} 1.25-2.94) but not in heterozygotes (HR 0.95 [95% CI 0.83-1.07]; P=.002, by heterogeneity test with 2 degrees of freedom [df]). When BRCA1 and BRCA2 mutation carriers were analyzed separately, the increased risk was statistically significant only among BRCA2 mutation carriers, in whom we observed HRs of 1.17 (95% CI 0.91-1.51) among heterozygotes and 3.18 (95% CI 1.39-7.27) among rare homozygotes (P=.0007, by heterogeneity test with 2 df). In addition, we determined that the 135G-->C variant affects RAD51 splicing within the 5' UTR. Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers.
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