Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.M1T
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TP53

NM_000546.6:p.M1T

Associated Papers

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.

Börcsök J et al.

The Journal of Clinical Investigation, 2025

40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › SFigure5E-G

ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.

Thorvaldsdottir B et al.

Leukemia, 2025

40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S2

Association of Glutathione S-transferase gene polymorphism with coronary artery disease (CAD) in North Indian population (Jammu and Kashmir): evidence from a case-control study and an updated meta-analysis.

Raina JK et al.

Inhalation Toxicology, 2025

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.

Rein HL et al.

Dna Repair, 2024

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › PALB2

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.

Serebriiskii IG et al.

Npj Genomic Medicine, 2023

38001126 (PubMed )
Supplement: 41525_2023_384_MOESM1_ESM.xlsx › Table_S6

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.

van Dooijeweert B et al.

Genes, 2022

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Çakır AY et al.

Turkish Journal of Medical Sciences, 2022

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).

Gong Y et al.

International Journal of Molecular Sciences, 2021

34445631 (PubMed )
Supplement: ijms-22-08924-s001.zip › Table_S1.pdf

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO et al.

Nature Genetics, 2018

30224644 (PubMed )
Supplement: NIHMS1501645-supplement-4.xlsx › Giacomelli_et_al_New_Supplement

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Comprehensive Genomic Profiling of Esthesioneuroblastoma Reveals Additional Treatment Options.

Gay LM et al.

The Oncologist, 2017

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

Wong-Brown MW et al.

Breast Cancer Research and Treatment, 2015

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S et al.

Pediatric Blood & Cancer, 2014

Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer.

Bell K et al.

Breast Cancer Research and Treatment, 2014

Dupuytren's disease and the risk of malignant neoplasms.

Zyluk A et al.

Hereditary Cancer in Clinical Practice, 2014

DNA sequence profiles of the colorectal cancer critical gene set KRAS-BRAF-PIK3CA-PTEN-TP53 related to age at disease onset.

Berg M et al.

Plos One, 2010

21103049 (PubMed )
Supplement: pone.0013978.s002.xls › Table_S2

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY et al.

Human Mutation, 2009

Comprehensive scanning of the ATM gene with DOVAM-S.

Buzin CH et al.

Human Mutation, 2003

Abstracts of the 32nd european pancreatic club meeting

Folsch UR et al.

Digestion, 2000

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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."