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Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer
K. Lhotova, L. Stolarova, P. Zemankova, M. Vocka, M. Janatova, M. Borecka, M. Cerna, S. Jelinkova, J. Kral, Z. Volkova, M. Urbanova, P. Kleiblova, E. Machackova, L. Foretova, J. Hazova, P. Vasickova, F. Lhota, M. Koudova, L. Cerna, S. Tavandzis,...
Jazyk angličtina Země Švýcarsko
Typ dokumentu časopisecké články
Grantová podpora
16-29959A
Ministerstvo Zdravotnictví Ceské Republiky
NV17-32030A
Ministerstvo Zdravotnictví Ceské Republiky
NV18-03-00024
Ministerstvo Zdravotnictví Ceské Republiky
NU20-03-00016
Ministerstvo Zdravotnictví Ceské Republiky
DRO (FNOl, 00098892)
Ministerstvo Zdravotnictví Ceské Republiky
SVV2019/260367
Univerzita Karlova v Praze
PROGRES Q28/LF1
Univerzita Karlova v Praze
CZ.02.1.01/0.0/0.0/16_013/0001634
Univerzita Karlova v Praze
NV17-32030A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
Free Medical Journals
od 2009
PubMed Central
od 2009
Europe PubMed Central
od 2009
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2009-01-01
Open Access Digital Library
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2009
PubMed
32295079
DOI
10.3390/cancers12040956
Knihovny.cz E-zdroje
- Publikační typ
- časopisecké články MeSH
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.
Department of Medical Genetics GHC Genetics 110 00 Prague Czech Republic
Department of Medical Genetics Pronatal 147 00 Prague Czech Republic
Citace poskytuje Crossref.org
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- $a Lhotova, Klara $u Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, 128 53 Prague, Czech Republic. Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic.
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