rs2240688
This is a 3 prime utr variant variant in the PROM1 gene.
▶ClinVar annotation
Cone-rod dystrophy 12 (CORD12); Retinal macular dystrophy type 2 (MCDR2); Retinitis pigmentosa (RP); Stargardt disease 4 (STGD4)
View on ClinVar →▶Research that mentions this SNP (4)
▶Polymorphisms of the Stem Cell Marker Gene CD133 and the Risk of Lung Cancer in Chinese PopulationAssociationN=2,052Qing-Feng Liu et al.(2016)· Lung
Hospital-based case-control study of 1017 lung cancer patients and 1035 controls in Chinese population investigating associations between four functional CD133 SNPs and lung cancer risk. The rs2240688 A>C variant (AC/CC genotypes) was significantly associated with increased lung cancer risk under a recessive model (adjusted OR 1.19; 95% CI 1.01-1.42). The association remained significant in patients <65 years and with other histology types, but not with adenocarcinoma and squamous cell cancers. Other three SNPs (rs10022537, rs7686732, rs3130) showed no significant associations.
▶Polymorphisms at the microRNA binding-site of the stem cell marker geneCD133modify susceptibility to and survival of gastric cancerAssociationN=684Qiming Wang et al.(2015)· Molecular Carcinogenesis
This case-control study investigated associations between CD133 gene polymorphisms in microRNA binding sites and gastric cancer (GC) susceptibility and survival. Among 684 participants (371 cases, 313 controls), rs2240688 C allele was associated with increased GC risk (adjusted OR = 1.52, 95% CI = 1.09-2.13, P = 0.013), while rs3130 T allele was protective (adjusted OR = 0.68 per TT genotype, P = 0.033). The rs3130 TT genotype was also associated with improved overall survival (adjusted HR = 0.77, 95% CI = 0.63-0.93, P = 0.007), with median survival time of 43 months versus 26 months for CT/CC carriers.
▶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.
About PROM1
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
View all PROM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…