[Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications].
Syndrome héréditaire de prédisposition au cancer du sein et de l’ovaire : diagnostic et implications thérapeutiques.
BRCA1 Protein
/ analysis
BRCA2 Protein
/ analysis
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease
Genetic Testing
Hereditary Breast and Ovarian Cancer Syndrome
/ diagnosis
Humans
Mutation
Ovarian Neoplasms
/ drug therapy
Phthalazines
/ therapeutic use
Piperazines
/ therapeutic use
Poly(ADP-ribose) Polymerase Inhibitors
/ therapeutic use
BRCA1/2 mutation
Breast/ovarian syndrome
Mutation BRCA1/2, Syndrome ovaires/seins, Inhibiteurs de PARP, Olaparib
Olaparib
PARP inhibitors
Journal
Annales de pathologie
ISSN: 0242-6498
Titre abrégé: Ann Pathol
Pays: France
ID NLM: 8106337
Informations de publication
Date de publication:
Apr 2020
Apr 2020
Historique:
received:
18
12
2019
accepted:
17
01
2020
pubmed:
13
2
2020
medline:
18
2
2021
entrez:
13
2
2020
Statut:
ppublish
Résumé
Patients who carry the BReast Cancer 1 or 2 (BRCA) gene mutations have an underlying hereditary predisposition for breast and ovarian cancers. These deleterious genetic mutations are the most common ones implicated in hereditary breast and ovarian cancers. Oncogenetic counselling plays a key role in identifying patient for BRCA testing and for mutation identification. BRCA1/2 carriers have to be followed up regularly and may justify breast and/or adnexal prophylactic surgery, according to the French National Cancer Institute guidelines (INCa). Poly- (DNA-riboses) polymerases inhibitors, notably olaparib, have a major role in the management of epithelial ovarian cancer in patients with BRCA mutation and many studies are ongoing to expand their indications in a near future.
Identifiants
pubmed: 32046878
pii: S0242-6498(20)30026-2
doi: 10.1016/j.annpat.2020.01.004
pii:
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
Phthalazines
0
Piperazines
0
Poly(ADP-ribose) Polymerase Inhibitors
0
olaparib
WOH1JD9AR8
Types de publication
Journal Article
Review
Langues
fre
Sous-ensembles de citation
IM
Pagination
70-77Informations de copyright
Copyright © 2020 Elsevier Masson SAS. All rights reserved.