CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

<a href="/cs/project/NV19-03-00279" target="_blank" >NV19-03-00279: KLASIFIKACE VARIANT NEJASNÉHO VÝZNAMU V GENU CHEK2 A FENOTYPOVÁ CHARAKTERIZACE NÁDOROVÝCH ONEMOCNĚNÍ U NOSIČŮ PATOGENNÍCH VARIANT</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

Cells

ISSN

2073-4409

e-ISSN

—

Svazek periodika

9

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

43

Strana od-do

2675

Kód UT WoS článku

000601743900001

EID výsledku v databázi Scopus

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