Prevalence of germline pathogenic
Adult
Aged
BRCA1 Protein
/ genetics
BRCA2 Protein
/ genetics
Biomarkers, Tumor
Carcinoma, Ovarian Epithelial
/ diagnosis
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation
Humans
Middle Aged
Neoplasm Grading
Ovarian Neoplasms
/ diagnosis
Prevalence
Prognosis
Risk Factors
Young Adult
BRCA1
BRCA2
germline
ovarian cancer
screening
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
10
10
2018
revised:
14
12
2018
accepted:
05
01
2019
pubmed:
27
1
2019
medline:
4
6
2020
entrez:
27
1
2019
Statut:
ppublish
Résumé
Poly(ADP-ribose) polymerase inhibitors significantly improve progression-free survival in platinum-sensitive high-grade serous and endometrioid ovarian carcinoma, with greatest benefits observed in women with a pathogenic A cohort of sequential epithelial ovarian cancer cases recruited between June 2013 and September 2018 underwent germline Five hundred and fifty-seven patients were screened. Of these, 18% had inherited a pathogenic Our study suggests that age at diagnosis, family history of breast and/or ovarian cancer, medical history of breast cancer or a Manchester BRCA Score of ≥15 points are associated with a >10% prevalence of germline pathogenic
Identifiants
pubmed: 30683677
pii: jmedgenet-2018-105792
doi: 10.1136/jmedgenet-2018-105792
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
301-307Subventions
Organisme : Department of Health
ID : NIHR-CS-012-009
Pays : United Kingdom
Organisme : Department of Health
ID : RP-PG-0707-10031
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.