CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F20%3A00539738" target="_blank" >RIV/68378050:_____/20:00539738 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/20:10419623 RIV/00064165:_____/20:10419623

Result on the web

<a href="https://www.mdpi.com/2073-4409/9/12/2675" target="_blank" >https://www.mdpi.com/2073-4409/9/12/2675</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/cells9122675" target="_blank" >10.3390/cells9122675</a>

Result language

angličtina

Original language name

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30204 - Oncology

Project

<a href="/en/project/NV19-03-00279" target="_blank" >NV19-03-00279: Variants of unknown significance in the CHEK2 gene: their functional classification and characterization of tumors in carriers of pathogenic mutations</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Cells

ISSN

2073-4409

e-ISSN

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Volume of the periodical

9

Issue of the periodical within the volume

12

Country of publishing house

CH - SWITZERLAND

Number of pages

43

Pages from-to

2675

UT code for WoS article

000601743900001

EID of the result in the Scopus database

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