ArticleBMC medical genetics2011
BCL-2 (-938C > A) polymorphism is associated with breast cancer susceptibility.
Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 3 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 3 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- BAX -248 G>A and BCL2 -938 C>A Variant Lowers the Survival in Patients with Nasopharyngeal Carcinoma and Could be Associated with Tissue-Specific Malignancies: A Multi-Method Approach.Asian Pacific journal of cancer prevention : APJCP · 2021Pooled it
- Genetic polymorphisms of Bcl-2 promoter in cancer susceptibility and prognosis: a meta-analysis.Oncotarget · 2017Pooled it
- Role of Bcl-2 -938 C>A polymorphism in susceptibility and prognosis of cancer: a meta-analysis.Scientific reports · 2014Pooled it
- Impact of BCL-2 rs2279115 and rs3943258 variants on protein expression and clinical outcome of urothelial bladder carcinoma.Molecular biology reports · 2026Article
- Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract.Molecular syndromology · 2024Article
- Analysis of the Polymorphisms and Expression Levels of the BCL2, BAX and c-MYC Genes in Patients with Ovarian Cancer.International journal of molecular sciences · 2023Article
- Molecular Evaluation of the Impact of Polymorphic Variants in Apoptotic (Current issues in molecular biology · 2023Article
- The Investigation of the Association Between theClinical Medicine Insights. Oncology · 2023Article
- The role of FASL, BCL-2 and BAX polymorphisms in brazilian patients with prostate cancer and benign prostatic hyperplasia.Molecular biology reports · 2022Article
- Evaluation ofArchives of Razi Institute · 2022Article
- Association of XRCC3, XRCC4, BAX, and BCL-2 Polymorphisms with the Risk of Breast Cancer.International journal of breast cancer · 2022Article
- Associations of BCL2 CA-Repeat Polymorphism and Breast Cancer Susceptibility in Isfahan Province of Iran.Biochemical genetics · 2021Article
- BCL-2 (-938C>A), BAX (-248G>A), and HER2 Ile655Val Polymorphisms and Breast Cancer Risk in Indian Population.Journal of oncology · 2021Article
- Identification and preservation of stained non-sentinel lymph nodes in breast cancer.Oncology letters · 2020Article
- Association of genetic polymorphism of BCL-2 (rs2279115) with susceptibility to HCV-related hepatocellular carcinoma.Immunologic research · 2020Observational
- The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss.Journal of assisted reproduction and genetics · 2019Article
- Association of single nucleotide polymorphisms in the coding region of Bcl-2 with the occurrence and prognosis of colorectal cancer: A case-control study.Cancer biomarkers : section A of Disease markers · 2017Article
- Study of the regulatory promoter polymorphism (-938C>A) of B-cell lymphoma 2 gene in breast cancer patients of Mazandaran province in Northern Iran.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2017Article
- The BCL2 -938C>A Promoter Polymorphism Is Associated with Risk for and Time to Aseptic Loosening of Total Hip Arthroplasty.PloS one · 2016Article
- Study of regulatory promoter polymorphism (-248 G>A) of Bax gene in patients with gastric cancer in the northern provinces of Iran.Gastroenterology and hepatology from bed to bench · 2016Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBCL-2 (B-cell leukemia/lymphoma 2) gene has been demonstrated to be associated with breast cancer development and a single nucleotide polymorphism (SNP; -938C > A) has been identified recently. To investigate whether this polymorphism functions as a modifier of breast cancer development, we analyzed the distribution of genotype frequency, as well as the association of genotype with clinicopathological characteristics. Furthermore, we also studied the effects of this SNP on Bcl-2 expression in vitro.
methodsWe genotyped the BCL-2 (-938C > A) in 114 patients and 107 controls, and analyzed the estrogen receptor (ER), progestogen receptor (PR), C-erbB2 and Ki67 status with immunohistochemistry (IHC). Different Bcl-2 protein levels in breast cancer cell lines were determined using western blot. Logistic regression model was applied in statistical analysis.
resultsWe found that homozygous AA genotype was associated with an increased risk (AA vs AC+CC) by 2.37-fold for breast cancer development and significant association was observed between nodal status and different genotypes of BCL-2 (-938C > A) (p = 0.014). AA genotype was more likely to develop into lobular breast cancer (p = 0.036). The result of western blot analysis indicated that allele A was associated with the lower level of Bcl-2 expression in breast cancer cell lines.
conclusionsAA genotype of BCL-2 (-938C > A) is associated with susceptibility of breast cancer, and this genotype is only associated with the nodal status and pathological diagnosis of breast cancer. The polymorphism has an effect on Bcl-2 expression but needs further investigation.
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