Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors
ABSTRACT 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...
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Published in | Human mutation Vol. 35; no. 3; pp. 294 - 297 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
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United States
Blackwell Publishing Ltd
01.03.2014
Hindawi Limited Wiley BlackWell Publishing Ltd |
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Abstract | ABSTRACT
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.
Using the trio exome sequencing strategy, we identified a germline de novo mutation of the INHBA gene in a patient who developed sporadic bilateral ovarian epithelial adenocarcinomas at 21 years of age and showed that this mutation affects the inhibin/activin ratio. Identification in patients with early‐onset ovarian tumors of other variations affecting this gene or its partner INHA, functional assays and statistical tests indicate that germline alterations of the inhibin/activin pathway may contribute to the genetic determinism of early‐onset epithelial ovarian tumors. |
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AbstractList | 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. ABSTRACT 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. Using the trio exome sequencing strategy, we identified a germline de novo mutation of the INHBA gene in a patient who developed sporadic bilateral ovarian epithelial adenocarcinomas at 21 years of age and showed that this mutation affects the inhibin/activin ratio. Identification in patients with early‐onset ovarian tumors of other variations affecting this gene or its partner INHA, functional assays and statistical tests indicate that germline alterations of the inhibin/activin pathway may contribute to the genetic determinism of early‐onset epithelial ovarian tumors. 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. 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. 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 beta A-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 alpha -subunit, the partner of the beta A-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. Using the trio exome sequencing strategy, we identified a germline de novo mutation of the INHBA gene in a patient who developed sporadic bilateral ovarian epithelial adenocarcinomas at 21 years of age and showed that this mutation affects the inhibin/activin ratio. Identification in patients with early-onset ovarian tumors of other variations affecting this gene or its partner INHA, functional assays and statistical tests indicate that germline alterations of the inhibin/activin pathway may contribute to the genetic determinism of early-onset epithelial ovarian tumors. 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 [beta]A-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 [alpha]-subunit, the partner of the [beta]A-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. |
Author | Caron, Olivier Ippolito, Lorena Bressac-de Paillerets, Brigitte Harrison, Craig Roman, Horace Théry, Jean-Christophe King, Mary-Claire Tinat, Julie Marlin, Régine Bougeard, Gaëlle Sabourin, Jean-Christophe Charbonnier, Françoise Frebourg, Thierry Vezain, Myriam Tournier, Isabelle Charbonnier, Camille Stoppa-Lyonnet, Dominique Walton, Kelly Coutant, Sophie Vaur, Dominique Spurrell, Cailyn |
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CitedBy_id | crossref_primary_10_1080_14728222_2020_1799350 crossref_primary_10_3389_fgene_2021_705512 crossref_primary_10_1002_ijc_30476 crossref_primary_10_1210_endocr_bqaa184 crossref_primary_10_1530_EJE_22_0330 crossref_primary_10_18632_oncotarget_28358 crossref_primary_10_26416_Gine_29_3_2020_4063 crossref_primary_10_1016_j_biocel_2024_106570 crossref_primary_10_1371_journal_pone_0090575 crossref_primary_10_1158_1078_0432_CCR_19_1065 |
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Copyright | 2013 The Authors. * published by Wiley Periodicals, Inc. 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc. Copyright © 2014 Wiley Periodicals, Inc. Attribution - NonCommercial - NoDerivatives 2013 The Authors. * published by Wiley Periodicals, Inc. 2013 |
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Keywords | ovary exome activin cancer INHBA INHA inhibin Exome Ovary Inhibin Activin Cancer |
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Snippet | ABSTRACT
To identify novel genetic bases of early‐onset epithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial... 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... To identify novel genetic bases of early-onsetepithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial history of... |
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SubjectTerms | activin Activins - biosynthesis Biochemistry, Molecular Biology Brief Reports cancer Carcinoma, Ovarian Epithelial Cell Differentiation Cohort Studies Epithelial Cells - metabolism Exome Female Genes Genomics Germ-Line Mutation Granulosa Cells - metabolism Humans INHA INHBA inhibin Inhibin-beta Subunits - genetics Inhibins - biosynthesis Life Sciences Molecular biology Mutation Neoplasms, Glandular and Epithelial - genetics Ovarian cancer Ovarian Neoplasms - genetics ovary Sequence Analysis, DNA Tumors Young Adult |
Title | Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors |
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