Germline multigene panel testing of patients with endometrial cancer.
EC
germline mutations
multigene panel testing
uterine malignancies
Journal
Oncology letters
ISSN: 1792-1082
Titre abrégé: Oncol Lett
Pays: Greece
ID NLM: 101531236
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
22
11
2022
accepted:
03
03
2023
medline:
8
5
2023
pubmed:
8
5
2023
entrez:
8
5
2023
Statut:
epublish
Résumé
Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes. Gene-level risks were calculated using 1,662 population-matched controls (PMCs). Patients were sub-categorized to fulfill GGT criteria for LS, HBOC, both or none. A total of 60 patients (11.4%) carried PV in LS (5.1%) and HBOC (6.6%) predisposition genes, including two carriers of double PV. PV in LS genes conferred a significantly higher EC risk [odds ratio (OR), 22.4; 95% CI, 7.8-64.3; P=1.8×10
Identifiants
pubmed: 37153042
doi: 10.3892/ol.2023.13802
pii: OL-25-6-13802
pmc: PMC10157349
doi:
Types de publication
Journal Article
Langues
eng
Pagination
216Informations de copyright
Copyright: © Kral et al.
Déclaration de conflit d'intérêts
The authors declare that they have no competing interests.
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