Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
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DOI：
10.1002/humu.22489
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发表时间：
2014-03
期刊：
影响因子：
3.9
通讯作者：
Frebourg, Thierry
中科院分区：
文献类型：
--
作者：
Tournier, Isabelle;Marlin, Regine;Walton, Kelly;Charbonnier, Francoise;Coutant, Sophie;Thery, Jean-Christophe;Charbonnier, Camille;Spurrell, Cailyn;Vezain, Myriam;Ippolito, Lorena;Bougeard, Gaelle;Roman, Horace;Tinat, Julie;Sabourin, Jean-Christophe;Stoppa-Lyonnet, Dominique;Caron, Olivier;Bressac-de Paillerets, Brigitte;Vaur, Dominique;King, Mary-Claire;Harrison, Craig;Frebourg, Thierry
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 second patient with early-onset serous borderline papillary cystadenoma, we identified an unreported germline mutation (c.179G>T/p.Arg60Leu) of the INHA gene encoding the α-subunit, the partner of the βA-subunit. This mutation also alters the secreted activin/inhibin ratio, by disrupting both inhibin A and inhibin B biosynthesis. In a cohort of 62 cases, we detected an additional unreported germline mutation of the INHBA gene (c.839G>A/p.Gly280Glu). Our results strongly suggest that inhibin mutations contribute to the genetic determinism of epithelial ovarian tumors.
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