Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
BRCA1
BRCA2
biliary tract cancers
hereditary BRCA cancer
somatic mutations
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2020
2020
Historique:
received:
04
03
2020
accepted:
22
06
2020
entrez:
9
9
2020
pubmed:
10
9
2020
medline:
10
9
2020
Statut:
epublish
Résumé
BRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk of developing other malignancies including cholangiocarcinoma (CCA). Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in families. Two healthy daughters of a deceased female patient who had had metachronous breast cancer and CCA received genetic counseling to assess their cancer risk. Somatic
Identifiants
pubmed: 32903564
doi: 10.3389/fonc.2020.01292
pmc: PMC7438755
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1292Informations de copyright
Copyright © 2020 Paradiso, Patruno, Digennaro, Tommasi, Pilato, Argentiero, Brunetti and Silvestris.
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