rs4645981
This is a regulatory region variant variant in the CASP9 gene.
▶Research that mentions this SNP (3)
▶A common and functional gene variant in the vascular endothelial growth factor a predicts clinical outcome in early‐stage breast cancerReviewGudrun Absenger et al.(2013)· Molecular Carcinogenesis
This document is a comprehensive collection of ~1,200 cancer-related research abstracts and summaries published in various journals (2013), covering clinical trials, pharmacogenomic studies, and mutation analyses across multiple cancer types including colorectal, breast, lung, lymphoma, and other malignancies. The collection documents associations between genetic variants (SNPs and somatic mutations), gene expression patterns, and cancer treatment outcomes, including studies on KRAS, EGFR, TP53, BRAF, and pharmacogenomic variants like CYP3A4 and UGT1A1.
▶Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in ChineseReviewChenli Xie et al.(2013)· Molecular Carcinogenesis
This is a comprehensive journal compilation containing multiple oncology and pharmacogenomics studies published in 2013 across various journals. The collection includes 60+ papers covering cancer treatment outcomes, genetic polymorphisms predicting chemotherapy response and survival, pharmacogenetic variants in drug metabolism and DNA repair genes, and prognostic biomarkers in various cancer types including breast, lung, colorectal, hematologic malignancies, and others. Key findings include associations of XRCC1 variants (rs915927, rs76507, rs2854501, rs2854509, rs3213255) with bladder cancer chemotherapy survival, ABCG2 rs2725264 with lung cancer overall survival (HR 3.22), SLCO1B1 rs4149056 with methotrexate pharmacokinetics, MTHFR rs1801131 with acute lymphoblastic leukemia outcome, and ABCC3/GSTM variants with acute myeloid leukemia survival.
▶Caspase polymorphisms and genetic susceptibility to multiple myelomaAssociationN=644Hosgood HD 3rd et al.(2008)· Hematological Oncology
A population-based case-control study of 128 multiple myeloma cases and 516 controls examined five SNPs in four caspase genes (CASP3, CASP8, CASP9, CASP10). CASP3 Ex8+567 T>C (rs1049216) CC genotype showed a five-fold decreased risk (OR=0.2, 95% CI=0.0-1.0). CASP9 Ex5+32 G>A (rs1052576) AG and AA genotypes were significantly protective (OR AG=0.8, OR AA=0.5, p-trend=0.02). These findings suggest genetic variation in caspase genes may play a role in multiple myeloma susceptibility.
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]
View all CASP9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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