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CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate
L. Stolarova, P. Kleiblova, M. Janatova, J. Soukupova, P. Zemankova, L. Macurek, Z. Kleibl
Language English Country Switzerland
Document type Journal Article, Research Support, Non-U.S. Gov't, Review
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PubMed
33322746
DOI
10.3390/cells9122675
Knihovny.cz E-resources
- MeSH
- Checkpoint Kinase 2 chemistry genetics metabolism MeSH
- Genetic Predisposition to Disease * MeSH
- Humans MeSH
- Mutation Rate MeSH
- Neoplasms enzymology genetics MeSH
- Substrate Specificity MeSH
- Germ-Line Mutation genetics MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
Germline alterations in many genes coding for proteins regulating DNA repair and DNA damage response (DDR) to DNA double-strand breaks (DDSB) have been recognized as pathogenic factors in hereditary cancer predisposition. The ATM-CHEK2-p53 axis has been documented as a backbone for DDR and hypothesized as a barrier against cancer initiation. However, although CHK2 kinase coded by the CHEK2 gene expedites the DDR signal, its function in activation of p53-dependent cell cycle arrest is dispensable. CHEK2 mutations rank among the most frequent germline alterations revealed by germline genetic testing for various hereditary cancer predispositions, but their interpretation is not trivial. From the perspective of interpretation of germline CHEK2 variants, we review the current knowledge related to the structure of the CHEK2 gene, the function of CHK2 kinase, and the clinical significance of CHEK2 germline mutations in patients with hereditary breast, prostate, kidney, thyroid, and colon cancers.
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