Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.F144L
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CHEK2

NM_007194.4:p.F144L

Associated Papers

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s010.xlsx › All_Assays

The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization.

Santiago F et al.

International Archives of Occupational and Environmental Health, 2021

CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population.

Bayram S et al.

Gene, 2013

CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population.

Bayram S et al.

Cancer Epidemiology, 2012

Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

Myszka A et al.

Journal of Applied Genetics, 2011

Age at onset of bilateral breast cancer, the presence of hereditary BRCA1, BRCA2, CHEK2 gene mutations and positive family history of cancer.

Skasko E et al.

Onkologie, 2009

Germ-line DNA polymorphisms and susceptibility to differentiated thyroid cancer.

Adjadj E et al.

The Lancet. Oncology, 2009

CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors.

Szymanska-Pasternak J et al.

Gynecologic Oncology, 2006

Selected Aspects of Molecular Diagnostics of Constitutional Alterations in BRCA1 and BRCA2 Genes Associated with Increased Risk of Breast Cancer in the Polish Population.

Górski B

Hereditary Cancer in Clinical Practice, 2006

Low frequency of the CHEK2*1100delC mutation among breast cancer probands from three regions of Poland.

Kwiatkowska E et al.

Neoplasma, 2006

Low frequency of CHEK2 mutations in familial pancreatic cancer.

Bartsch DK et al.

Familial Cancer, 2006

CHEK2 is a multiorgan cancer susceptibility gene.

Cybulski C et al.

American Journal of Human Genetics, 2004

A novel founder CHEK2 mutation is associated with increased prostate cancer risk.

Cybulski C et al.

Cancer Research, 2004

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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."