Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
cancer risk
mutation
next-generation sequencing
ovarian cancer
predisposition genes
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
13 Apr 2020
13 Apr 2020
Historique:
received:
15
03
2020
revised:
07
04
2020
accepted:
10
04
2020
entrez:
17
4
2020
pubmed:
17
4
2020
medline:
17
4
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 32295079
pii: cancers12040956
doi: 10.3390/cancers12040956
pmc: PMC7226062
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : 16-29959A
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : NV17-32030A
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : NV18-03-00024
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : NU20-03-00016
Organisme : Ministerstvo Zdravotnictví Ceské Republiky
ID : DRO (FNOl, 00098892)
Organisme : Univerzita Karlova v Praze
ID : SVV2019/260367
Organisme : Univerzita Karlova v Praze
ID : PROGRES Q28/LF1
Organisme : Univerzita Karlova v Praze
ID : CZ.02.1.01/0.0/0.0/16_013/0001634
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