Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family

Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family

Birt–Hogg–Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin (FLCN) gene transmitted via germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothora...

Full description

Bibliographic Details
Main Authors: Erika Bandini, Ilaria Cangini, Valentina Arcangeli, Mila Ravegnani, Virginia Andreotti, Giovanna Prisinzano, Lorenza Pastorino, Giovanni Martinelli, Fabio Falcini, Daniele Calistri, Valentina Zampiga, Rita Danesi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Oncology
Subjects:
case report
Birt–Hogg–Dubé
FLCN
BRCA2
NGS
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2022.835346/full

Internet

https://www.frontiersin.org/articles/10.3389/fonc.2022.835346/full

Similar Items