rs2301717
This is a intron variant variant in the CASP6 gene.
▶Research that mentions this SNP (4)
▶RIPK1 and CASP7 polymorphism as prognostic markers for survival in patients with colorectal cancer after complete resectionAssociationN=377Yee Soo Chae et al.(2011)· Journal of Cancer Research and Clinical Oncology
This association study of 377 Korean colorectal cancer patients examined 15 SNPs in 12 apoptosis-related genes as prognostic markers for survival after curative resection. RIPK1 rs2272990 (GA/AA genotype, HR=2.093, p=0.007) and CASP7 rs2227310 (GG genotype, HR=2.641, p=0.002) were significantly associated with worse disease-free survival in multivariate analysis, with similar associations for disease-specific survival. The polymorphisms showed stronger associations in colon cancer than rectal cancer.
▶Lymphotoxin alfa and receptor-interacting protein kinase 1 gene polymorphisms may correlate with prognosis in patients with diffuse large B cell lymphoma treated with R-CHOPAssociationN=90Yee Soo Chae et al.(2010)· Cancer Chemotherapy and Pharmacology
In 90 DLBCL patients treated with R-CHOP chemotherapy, polymorphisms in apoptosis-related genes were analyzed. The AA genotype of LTA C804A (rs1041981) was associated with worse time to progression (HR = 7.92; 95% CI = 1.42-44.18; P = 0.018), as was the GG genotype of RIPK1 G83A (rs2272990) (HR = 20.02; 95% CI = 1.59-251.52; P = 0.018). These polymorphisms may serve as prognostic markers for DLBCL treated with R-CHOP.
▶TP53 codon 72 polymorphism associated with prognosis in patients with advanced gastric cancer treated with paclitaxel and cisplatinAssociationN=57Jong Gwang Kim et al.(2009)· Cancer Chemotherapy and Pharmacology
In 57 patients with advanced gastric cancer treated with paclitaxel and cisplatin, the TP53 codon 72 polymorphism (rs1042522) was found to predict chemotherapy response and progression-free survival. Patients carrying Arg/Pro or Pro/Pro genotypes had significantly lower chemotherapy response rates (35.7% vs 66.7%, P=0.019) and worse time to progression (HR=3.056, P=0.047) compared to Arg/Arg carriers.
▶Prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/COX2) 8473T>C polymorphism associated with prognosis for patients with colorectal cancer treated with capecitabine and oxaliplatinAssociationN=76Jong Gwang Kim et al.(2009)· Cancer Chemotherapy and Pharmacology
This study analyzed 15 apoptosis-related gene polymorphisms in 76 patients with metastatic colorectal cancer treated with capecitabine and oxaliplatin chemotherapy. The PTGS2 8473T>C (rs5275) polymorphism was found to be significantly associated with progression-free survival (p=0.038, HR=2.19, dominant model p=0.046) and overall survival (p=0.040, dominant model p=0.013) in multivariate Cox regression analysis.
About CASP6
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]
View all CASP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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