rs1801018

This is a synonymous variant in the BCL2 gene — it does not change the protein's amino acid sequence.

ClinVar annotation

Benign
1 submitter

BCL2-related disorder

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Research that mentions this SNP (4)

Impact of BCL2 polymorphisms on survival in transitional cell carcinoma of the bladder
AssociationN=179Jochen Hess et al.(2017)· Journal of Cancer Research and Clinical Oncology

This study examined three BCL2 single-nucleotide polymorphisms (c.-938C>A rs2279115, c.21G>A rs1801018, and c.*2203A>G rs4987853) in 179 bladder cancer patients and found significant associations with survival outcomes. The c.-938C>A polymorphism was associated with relapse-free survival (p=0.024), while c.21G>A showed stronger associations with both relapse-free survival (p=0.009) and progression-free survival (p=0.012), demonstrating pronounced allele dose effects in both cases. The c.*2203A>G polymorphism showed no significant survival associations.

Traits studied:Bladder cancerOverall survivalProgression-free survivalRelapse-free survivalTransitional cell carcinoma of the bladder
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 BCL2

This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all BCL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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