Ontology highlight
ABSTRACT:
SUBMITTER: Tournier I
PROVIDER: S-EPMC4284000 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Tournier Isabelle I Marlin Régine R Walton Kelly K Charbonnier Françoise F Coutant Sophie S Théry Jean-Christophe JC Charbonnier Camille C Spurrell Cailyn C Vezain Myriam M Ippolito Lorena L Bougeard Gaëlle G Roman Horace H Tinat Julie J Sabourin Jean-Christophe JC Stoppa-Lyonnet Dominique D Caron Olivier O Bressac-de Paillerets Brigitte B Vaur Dominique D King Mary-Claire MC Harrison Craig C Frebourg Thierry T
Human mutation 20131227 3
To identify novel genetic bases of early-onset epithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial history of cancer who presented metastatic serous ovarian adenocarcinomas at 21 years of age. We identified a single de novo mutation (c.1157A>G/p.Asn386Ser) within the INHBA gene encoding the βA-subunit of inhibins/activins, which play a key role in ovarian development. In vitro, this mutation alters the ratio of secreted activins and inhibins. In a ...[more]