Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F20%3A00539594" target="_blank" >RIV/68378050:_____/20:00539594 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/20:10411787 RIV/00064211:_____/20:W0000028 RIV/00098892:_____/20:N0000097 RIV/00209805:_____/20:00078379 RIV/00064165:_____/20:10411787

Result on the web

<a href="https://www.mdpi.com/2072-6694/12/4/956" target="_blank" >https://www.mdpi.com/2072-6694/12/4/956</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/cancers12040956" target="_blank" >10.3390/cancers12040956</a>

Result language

angličtina

Original language name

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

Original language description

Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates treatment and preventive strategies reducing OC mortality in mutation carriers. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified. We aimed to analyze 219 genes in 1333 Czech OC patients and 2278 population-matched controls using next-generation sequencing. We revealed germline mutations in 18 OC/BC predisposition genes in 32.0% of patients and in 2.5% of controls. Mutations in BRCA1/BRCA2, RAD51C/RAD51D, BARD1, and mismatch repair genes conferred high OC risk (OR > 5). Mutations in BRIP1 and NBN were associated with moderate risk (both OR = 3.5). BRCA1/2 mutations dominated in almost all clinicopathological subgroups including sporadic borderline tumors of ovary (BTO). Analysis of remaining 201 genes revealed somatic mosaics in PPM1D and germline mutations in SHPRH and NAT1 associating with a high/moderate OC risk significantly, however, further studies are warranted to delineate their contribution to OC development in other populations. Our findings demonstrate the high proportion of patients with hereditary OC in Slavic population justifying genetic testing in all patients with OC, including BTO.

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

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

Publication year

2020

Confidentiality

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

Name of the periodical

Cancers (Basel)

ISSN

2072-6694

e-ISSN

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Volume of the periodical

12

Issue of the periodical within the volume

4

Country of publishing house

CH - SWITZERLAND

Number of pages

14

Pages from-to

956

UT code for WoS article

000535587400184

EID of the result in the Scopus database

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