Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.T59K
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CHEK2

NM_007194.4:p.T59K

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.s008.xlsx › All_SNVs_Data

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 2023

36315097 (PubMed )
Supplement: djac196_supplementary_data.zip › djac196_Supplementary_Data › JNCI-22-0201R4_Campbell_Supplementary_Tables_1-5_101822.xlsx › Supp_Table2_CHEK2_MS

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17

Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.

Srivastava A et al.

Frontiers in Endocrinology, 2021

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Badgujar NV et al.

Plos One, 2019

Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Raskin L et al.

Oncotarget, 2017

29212164 (PubMed )
Supplement: oncotarget-08-93450-s002.xlsx › Sup.Table1-All_rare_variants

[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

Macháčková E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Deregulation of the EGFR/PI3K/PTEN/Akt/mTORC1 pathway in breast cancer: possibilities for therapeutic intervention.

Davis NM et al.

Oncotarget, 2014

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Roeb W et al.

Human Molecular Genetics, 2012

[Surgical prevention of breast carcinoma in patients with hereditary risk].

Dražan L et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

Absence of CHEK2 mutations in Spanish families with hereditary breast cancer.

Bellosillo B et al.

Cancer Genetics and Cytogenetics, 2005

Analysis of CHEK2 gene for ovarian cancer susceptibility.

Baysal BE et al.

Gynecologic Oncology, 2004

Mutation analysis of the CHK2 gene in breast carcinoma and other cancers.

Ingvarsson S et al.

Breast Cancer Research : Bcr, 2002

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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."