Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F25%3A00638798" target="_blank" >RIV/68378050:_____/25:00638798 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/25:10501710 RIV/00064165:_____/25:10501710
Result on the web
<a href="https://doi.org/10.1200/PO-24-00945" target="_blank" >https://doi.org/10.1200/PO-24-00945</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1200/PO-24-00945" target="_blank" >10.1200/PO-24-00945</a>
Alternative languages
Result language
angličtina
Original language name
Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia
Original language description
PURPOSECHEK2 is the frequently detected cancer-predisposing gene in female breast cancer. In addition, the association with the risks of other cancer types has been suggested, and clinical management has also been discussed. Although clinical relevance of germline variants differs across population, there is little evidence of the clinical relevance of CHEK2 germline variants in East Asia.METHODSTargeted sequencing and functional analyses of missense variants for the coding region of CHEK2 in 111,571 East Asian individuals were performed. Variants classified as pathogenic/likely pathogenic in ClinVar, predicted loss-of-function, or functionally impaired in functional analysis were defined as germline damaging variants (gDVs). We evaluated the association between CHEK2 gDVs and the risk of 23 cancer types. We also compared the clinical characteristics of carriers and noncarriers among patients with CHEK2-associated cancers.RESULTSWe identified 77 gDVs including 36 functionally impaired missense variants. CHEK2 gDVs were significantly associated exclusively with prostate cancer (odds ratio [OR], 1.8 [95% CI, 1.2 to 2.6],P = 1.7 x 10-3), in addition to female breast cancer (OR, 1.8 [95% CI, 1.3 to 2.6], P = 1.2 x 10-3), among 23 cancer types. There were no differences in age at diagnosis, pathologic status, and prognosis between carriers and noncarriers. Besides, there was no association with the risk of cancer types with high incidence rates in East Asian countries.CONCLUSIONCHEK2 gDVs were associated with female breast and prostate cancer risks in East Asia. The necessity of additional systematic clinical management for all CHEK2 gDV carriers should be carefully discussed, and standard cancer screening is recommended unless no other clinical features suggestive of cancer predisposition are noted in East Asia.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30204 - Oncology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
JCO Precision Oncology
ISSN
2473-4284
e-ISSN
2473-4284
Volume of the periodical
9
Issue of the periodical within the volume
Sep 02
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
e2400945
UT code for WoS article
001562439000001
EID of the result in the Scopus database
2-s2.0-105015566703