Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis

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Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

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Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

International audienceTo 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

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

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