rs3136228
This variant is located in the MSH6 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Bladder cancer SNP panel predicts susceptibility and survivalAssociationN=2,023Angeline S. Andrew et al.(2009)· Human Genetics
A population-based case-control study of 832 bladder cancer cases and 1,191 controls examining SNPs in cancer-regulatory pathways identified increased risk associated with MTHFD2 (OR 1.7, 95% CI 1.3-2.3), TEP1 (OR 1.8, 95% CI 1.2-2.6), and decreased risk with IL8RB (OR 0.6, 95% CI 0.5-0.9). Survival analysis found shorter survival with CASP9 variants (HR 1.8, 95% CI 1.1-3.0) and longer survival with EPHX1 variants (HR 0.4, 95% CI 0.2-0.8). Multi-SNP combinations in metabolism, DNA repair, telomerase, and apoptosis pathways were also predictive of bladder cancer risk and prognosis.
About MSH6
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
View all MSH6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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