Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors - Normandie Université Access content directly
Journal Articles Human Mutation Year : 2014

Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

Brigitte Bressac-de Paillerets
  • Function : Author
  • PersonId : 849894

Abstract

To identify novel genetic bases of early-onsetepithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial history of cancerwho presented metastatic serous ovarian adenocarcinomasat 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 akey role in ovarian development. In vitro, this mutation alters the ratio of secreted activins and inhibins. In a secondpatient with early-onset serous borderline papillary cystadenoma, we identified an unreported germline mutation(c.179G>T/p.Arg60Leu) of the INHA gene encoding theα-subunit, the partner of the βA-subunit. This mutationalso alters the secreted activin/inhibin ratio, by disruptingboth inhibin A and inhibin B biosynthesis. In a cohort of62 cases, we detected an additional unreported germlinemutation of the INHBA gene (c.839G>A/p.Gly280Glu).Our results strongly suggest that inhibin mutations contribute to the genetic determinism of epithelial ovariantumors.
Fichier principal
Vignette du fichier
humu.22489.pdf (209.21 Ko) Télécharger le fichier
Origin : Publication funded by an institution

Dates and versions

hal-02375836 , version 1 (27-05-2021)

Licence

Attribution - NonCommercial - NoDerivatives

Identifiers

Cite

Isabelle Tournier, Régine Marlin, Kelly Walton, Francoise Charbonnier, Sophie Coutant, et al.. Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors. Human Mutation, 2014, 35 (3), pp.294-297. ⟨10.1002/humu.22489⟩. ⟨hal-02375836⟩
92 View
40 Download

Altmetric

Share

Gmail Facebook X LinkedIn More