rs1047266

This is a protein-altering variant in the TNFRSF10B gene.

ClinVar annotation

Benign
1 submitter

TNFRSF10B-related disorder

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Research that mentions this SNP (4)

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
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-CHOP
AssociationN=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.

Traits studied:Diffuse large B cell lymphoma (DLBCL)Overall survivalTime to progression with R-CHOP chemotherapy
TNF superfamily gene polymorphism as prognostic factor in early breast cancer
AssociationN=240Jin Hyang Jung et al.(2010)· Journal of Cancer Research and Clinical Oncology

A case-control association study of 240 early breast cancer patients examining 12 SNPs in apoptosis-related genes found that TNFSF10 rs1131532 (F275F) was significantly associated with poor survival outcomes, with the TT genotype showing worse disease-free survival (HR = 3.304, P = 0.002), distant disease-free survival (HR = 4.757, P = 0.001), and overall survival (HR = 4.691, P = 0.002). PTGS2 rs5275 was also associated with distant disease-free survival (HR = 0.302, P = 0.041).

Traits studied:Disease-free survivalDistant disease-free survivalEarly breast cancerOverall survival
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

About TNFRSF10B

The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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