Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E2E
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TP53

NM_000546.6:p.E2E

Associated Papers

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › BVs

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM1_ESM.pdf

Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis.

Diakite B et al.

Bmc Medical Genetics, 2020

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Koczkowska M et al.

Cancers, 2018

30441849 (PubMed )
Supplement: cancers-10-00442-s001.pdf

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Leroy B et al.

Cancer Research, 2017

A meta-analysis of cancer risk associated with the TP53 intron 3 duplication polymorphism (rs17878362): geographic and tumor-specific effects.

Sagne C et al.

Cell Death & Disease, 2013

Intron 3 sixteen base pairs duplication polymorphism of p53 contributes to breast cancer susceptibility: evidence from meta-analysis.

Wu D et al.

Plos One, 2013

A quadruplex tetra-primer ARMS-PCR method for the simultaneous detection of TP53 Arg72Pro, IVS3 16bp Del/Ins and IVS6+62A>G, and NQO1 C609T polymorphisms.

Lajin B et al.

Gene, 2012

Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer.

Ashton KA et al.

Gynecologic Oncology, 2009

High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling.

Bastien R et al.

Human Mutation, 2008

Association of polymorphism in MDM-2 and p53 genes with breast cancer risk in Indian women.

Singh V et al.

Annals of Epidemiology, 2008

Single Nucleotide Polymorphisms in Selected Apoptotic Genes and BPDE-Induced Apoptotic Capacity in Apparently Normal Primary Lymphocytes: A Genotype-Phenotype Correlation Analysis.

Hu Z et al.

Journal of Cancer Epidemiology, 2008

Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study.

Garcia-Closas M et al.

Bmc Cancer, 2007

TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes.

Petitjean A et al.

Oncogene, 2007

Association of specific p53 polymorphisms with keratosis in individuals exposed to arsenic through drinking water in West Bengal, India.

De Chaudhuri S et al.

Mutation Research, 2006

Role of p53 gene polymorphism and bladder cancer predisposition in northern India.

Srivastava P et al.

Cancer Biomarkers : Section a of Disease Markers, 0

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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."