rs1801320
This is a regulatory region variant variant in the RAD51 gene.
▶ClinVar annotation
Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers
View on ClinVar →▶Research that mentions this SNP (3)
▶Association of polymorphisms in the 5′ untranslated region of RAD51 gene with risk of endometrial cancer in the Polish populationAssociationN=1,260Magdalena M. Michalska et al.(2014)· Archives of Gynecology and Obstetrics
A case-control study in a Polish population of 630 endometrial cancer patients and 630 controls examining two RAD51 gene polymorphisms in the 5' UTR. The G135C polymorphism (rs1801320) showed significant association with endometrial cancer risk (C/C genotype OR=3.72, 95% CI 2.77-5.00, p<0.0001; C allele OR=2.54, 95% CI 2.16-2.99, p<0.0001), with higher 135C allele frequency in patients (69%) versus controls (46%). The G172T polymorphism (rs1801321) showed no significant association with cancer occurrence overall, but both polymorphisms correlated with cancer grade, with 172T allele associated with increased risk in grade 1 patients (OR=3.81, 95% CI 2.90-5.01, p<0.0001).
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶Functional NBS1 polymorphism is associated with occurrence and advanced disease status of nasopharyngeal carcinomaAssociationN=146Jian Zheng et al.(2011)· Molecular Carcinogenesis
This study investigated whether SNP polymorphisms in DNA repair genes (NBS1, LIG4, and RAD51) predict platinum-based chemotherapy response and survival in 146 advanced NSCLC patients in a Chinese population. LIG4 Thr9Ile (rs1805388) CC genotype was associated with better chemotherapy response (50% vs 32.7%, P=0.042) and superior progression-free survival (log-rank P=0.045). NBS1 Glu185Gln (rs1805794) GG genotype showed significantly increased sensitivity to platinum-based chemotherapy (P=0.001), while RAD51 135G/C (rs1801320) showed no significant association.
About RAD51
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
View all RAD51 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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