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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
Jazyk angličtina Země Švýcarsko
Typ dokumentu časopisecké články, práce podpořená grantem, přehledy
NLK
Directory of Open Access Journals
od 2012
Free Medical Journals
od 2012
PubMed Central
od 2012
Europe PubMed Central
od 2012
ProQuest Central
od 2012-03-01
Open Access Digital Library
od 2012-01-01
Open Access Digital Library
od 2012-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2012
PubMed
33322746
DOI
10.3390/cells9122675
Knihovny.cz E-zdroje
- MeSH
- checkpoint kinasa 2 chemie genetika metabolismus MeSH
- genetická predispozice k nemoci * MeSH
- lidé MeSH
- mutační rychlost MeSH
- nádory enzymologie genetika MeSH
- substrátová specifita MeSH
- zárodečné mutace genetika MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy 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.
Citace poskytuje Crossref.org
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