Varaico: Literature-Extracted Genetic Variants

Gene:BCL2
Variant:p.A43T
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BCL2

NM_000633.3:p.A43T

Associated Papers

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis.

Elamin G et al.

Frontiers in Genetics, 2024

39840282 (PubMed )
Supplement: Table1.docx

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2.

Sangree AK et al.

Nature Communications, 2022

35288574 (PubMed )
Supplement: 41467_2022_28884_MOESM11_ESM.xlsx › NG-CBE_Library_Annotation

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s007.xlsx › Table_S3C

Association of BCL2 polymorphisms and the IL19 single nucleotide polymorphism rs2243188 with systemic lupus erythematosus.

Wang W et al.

The Journal of International Medical Research, 2021

Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study.

Chiou HC et al.

Neoplasia (new York, N.y.), 2020

32438306 (PubMed )
Supplement: mmc1.pdf

Cumulative Evidence for Associations between Genetic Variants and Risk of Esophageal Cancer.

Li G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

31969372 (PubMed )
Supplement: 10559965epi191281-sup-230715_3_supp_6000458_q3kstt.docx

Impact of lymphoma-linked Asn11Tyr point mutation on the interaction between Bcl-2 and a BH3 mimetic: Insights from molecular dynamics simulation.

Singh K et al.

Chemical Biology & Drug Design, 2020

Mutations in apoptotic genes and micronucleus occurrence in vinyl chloride-exposed workers in China.

Feng N et al.

Environmental and Molecular Mutagenesis, 2017

Association of single nucleotide polymorphisms in the coding region of Bcl-2 with the occurrence and prognosis of colorectal cancer: A case-control study.

Huang B et al.

Cancer Biomarkers : Section a of Disease Markers, 2017

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

Quantitative assessment of the association between Fas/FasL gene polymorphism and susceptibility to esophageal carcinoma in a north Chinese population.

Zhang M et al.

Cancer Medicine, 2016

P53 rs1042522 and CD95 rs1800682 genetic variations in HCV-4a response to antiviral therapy.

Abd-Rabou AA et al.

Genes & Diseases, 2015

BCL2 mutations are associated with increased risk of transformation and shortened survival in follicular lymphoma.

Correia C et al.

Blood, 2015

Role of polymorphisms in BCL-2 and BAX genes in modulating the risk of developing non-Hodgkin lymphoma.

Wang WL et al.

Leukemia & Lymphoma, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

The -938A/A genotype of BCL2 gene is associated with esophageal cancer.

Liu Z et al.

Medical Oncology (northwood, London, England), 2012

Does HCV Patients Who Have BCL2 43Ala Genotype and Normal GH1 Levels Can Achieve Response to IFN Based Therapy?

Eskander EF et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2012

Genetic variation in BCL-2 and response to interferon in hepatitis C virus type 4 patients.

Shaker OG et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

BCL2 Ala43Thr is a functional variant associated with protection against azoospermia in a Han-Chinese population.

Ma J et al.

Biology of Reproduction, 2010

BCL2 gene polymorphism could predict the treatment outcomes in acute myeloid leukemia patients.

Moon JH et al.

Leukemia Research, 2010

A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.

Young RP et al.

Postgraduate Medical Journal, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Cyclin D1 Pro241Pro (CCND1-G870A) polymorphism is associated with increased cancer risk in human populations: a meta-analysis.

Pabalan N et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

Influence of apoptosis (BCL2, FAS), cell cycle (CCND1) and growth factor (EGF, EGFR) genetic polymorphisms on survival outcome: an exploratory study in squamous cell esophageal cancer.

Jain M et al.

Cancer Biology & Therapy, 2007

Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer.

Jain M et al.

Cancer Detection and Prevention, 2007

Identification of variants in cyclin D1 ( CCND1) and B-Cell CLL/lymphoma 2 ( BCL2).

Park BL et al.

Journal of Human Genetics, 2004

Genetics of type 1 diabetes mellitus.

Pociot F et al.

Genes and Immunity, 2002

No evidence of a functionally significant polymorphism of the BCL2 gene in Danish, Finnish and Basque type 1 diabetes families.

Heding PE et al.

Genes and Immunity, 2001

The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity: an analytical evaluation.

Komaki S et al.

Human Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."