BRCA1 gene
BRCA2 gene
PARP inhibitors
ovarian cancer
tumor biomarkers
Journal
Indian journal of cancer
ISSN: 1998-4774
Titre abrégé: Indian J Cancer
Pays: India
ID NLM: 0112040
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
entrez:
28
3
2022
pubmed:
29
3
2022
medline:
1
4
2022
Statut:
ppublish
Résumé
Ovarian cancer (OC) is one of the most lethal gynecological cancers with a 5-year survival rate that ranges from 30% to 40%. Breast cancer genes (BRCA1 and BRCA2) play a key role in maintaining genomic stability. Mutations in BRCA1/2 genes lead to the accumulation of double-strand breaks, resulting in tumorigenesis. The risk of developing OC in women with BRCA1 and BRCA2 mutations is 39% and 11%, respectively, by 70 years of age. BRCA1/2 mutation testing is thus important to identify women at greatest risk of developing OC in addition to its impact on diagnosis, prognosis, and targeted therapy. Genetic testing is required to identify the BRCA mutations and thus select patients who can benefit from polyadenosine diphosphate (ADP)-ribose polymerase (PARP) inhibitor therapy. Tumor BRCA mutation testing can detect both germline and somatic mutations allowing implementation of preventive strategies on a broader population. Various international guidelines recommend BRCA1/2 mutation genetic testing in all OC patients irrespective of age and family history. This review focuses on the role of BRCA mutation testing in OC.
Identifiants
pubmed: 35343191
pii: IndianJournalofCancer_2022_59_5_56_340520
doi: 10.4103/ijc.IJC_1394_20
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
S56-S67Déclaration de conflit d'intérêts
None