rs1052571

This variant is located in the CASP9 gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

CASP9-related disorder; not provided

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Research that mentions this SNP (2)

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RIPK1 and CASP7 polymorphism as prognostic markers for survival in patients with colorectal cancer after complete resection
AssociationN=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.

Traits studied:Colorectal cancer survivalDisease-free survivalDisease-specific survivalPrognosis in colorectal cancer
PubMedDOIMetascience Observatory
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Prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/COX2) 8473T>C polymorphism associated with prognosis for patients with colorectal cancer treated with capecitabine and oxaliplatin
AssociationN=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.

Traits studied:Colorectal cancer prognosisOverall survivalProgression-free survivalResponse to chemotherapy
PubMedDOIMetascience Observatory

About CASP9

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. 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 residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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