Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.R474delFs
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CHEK2

NM_007194.4:p.R474delFs

Associated Papers

Inherited Germline Variants in Urinary Tract Cancer: A Multicenter Whole-Exome Sequencing Analysis and Correlation With Clinical Features and Tumor Genomics.

Kohlmann W et al.

Jco Precision Oncology, 2024

The Prevalence of CHEK1 and CHEK2 Mutations in Prostate Cancer: a Retrospective Cohort Study.

Alorjani M et al.

Medical Archives (sarajevo, Bosnia and Herzegovina), 2023

Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes.

Reitsam NG et al.

Frontiers in Oncology, 2022

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L et al.

Plos One, 2018

30091983 (PubMed )
Supplement: pone.0201041.s004.xlsx › Tabelle1

Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.

Zhuang X et al.

Medicine, 2016

Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids.

Münch C et al.

Bmc Evolutionary Biology, 2008

Role of CHK2 in cancer development.

Perona R et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2008

CHK2 kinase: cancer susceptibility and cancer therapy - two sides of the same coin?

Antoni L et al.

Nature Reviews. Cancer, 2007

Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype.

van Puijenbroek M et al.

The Journal of Pathology, 2005

Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome.

Sodha N et al.

Human Mutation, 2002

A robust method for detecting CHK2/RAD53 mutations in genomic DNA.

Sodha N et al.

Human Mutation, 2002

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

Lee SB et al.

Cancer Research, 2001

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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."