Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.N171D
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CHEK2

NM_007194.4:p.N171D

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

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.

Lee ES et al.

Advances in Experimental Medicine and Biology, 2021

Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.

Fostira F et al.

Breast Cancer Research and Treatment, 2018

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.

Stafford JL et al.

Plos One, 2017

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.

Kim H et al.

Familial Cancer, 2015

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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."