Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Identifieur interne : 003902 ( Main/Exploration ); précédent : 003901; suivant : 003903Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Auteurs : Leora Witkowski [Canada] ; Jian Carrot-Zhang [Canada] ; Steffen Albrecht [Canada] ; Somayyeh Fahiminiya [Canada] ; Nancy Hamel [Canada] ; Eva Tomiak [Canada] ; David Grynspan [Canada] ; Emmanouil Saloustros [Grèce] ; Javad Nadaf [Canada] ; Barbara Rivera [Canada] ; Catherine Gilpin [Canada] ; Ester Castellsagué [Canada] ; Rachel Silva-Smith [Canada] ; François Plourde [Canada] ; Mona Wu [Canada] ; Avi Saskin [Canada] ; Madeleine Arseneault [Canada] ; Rouzan G. Karabakhtsian [États-Unis] ; Elizabeth A. Reilly [États-Unis] ; Frederick R. Ueland [États-Unis] ; Anna Margiolaki [Grèce] ; Kitty Pavlakis [Grèce] ; Sharon M. Castellino [États-Unis] ; Janez Lamovec [Slovénie] ; Helen J. Mackay [Canada] ; Lawrence M. Roth [États-Unis] ; Thomas M. Ulbright [États-Unis] ; Tracey A. Bender [États-Unis] ; Vassilis Georgoulias [Grèce] ; Michel Longy [France] ; Andrew Berchuck [États-Unis] ; Marc Tischkowitz [Royaume-Uni] ; Inga Nagel [Allemagne] ; Reiner Siebert [Allemagne] ; Colin J R. Stewart [Australie] ; Jocelyne Arseneau [Canada] ; W Glenn Mccluggage [Royaume-Uni] ; Blaise A. Clarke [Canada] ; Yasser Riazalhosseini [Canada] ; Martin Hasselblatt [Allemagne] ; Jacek Majewski [Canada] ; William D. Foulkes [Canada]Source :
- Nature genetics [ 1546-1718 ] ; 2014.
Descripteurs français
- KwdFr :
- Analyse de séquence d'ADN, Carcinome à petites cellules (génétique), Composants de gène, Données de séquences moléculaires, Exome (génétique), Facteurs de transcription (génétique), Femelle, Helicase (génétique), Humains, Immunohistochimie, Immunotransfert, Lignée cellulaire tumorale, Mutation (génétique), Protéines nucléaires (génétique), Séquence nucléotidique, Technique FISH, Tumeurs de l'ovaire (génétique).
- MESH :
- génétique : Carcinome à petites cellules, Exome, Facteurs de transcription, Helicase, Mutation, Protéines nucléaires, Tumeurs de l'ovaire.
- Analyse de séquence d'ADN, Composants de gène, Données de séquences moléculaires, Femelle, Humains, Immunohistochimie, Immunotransfert, Lignée cellulaire tumorale, Séquence nucléotidique, Technique FISH.
English descriptors
- KwdEn :
- Base Sequence, Carcinoma, Small Cell (genetics), Cell Line, Tumor, DNA Helicases (genetics), Exome (genetics), Female, Gene Components, Humans, Immunoblotting, Immunohistochemistry, In Situ Hybridization, Fluorescence, Molecular Sequence Data, Mutation (genetics), Nuclear Proteins (genetics), Ovarian Neoplasms (genetics), Sequence Analysis, DNA, Transcription Factors (genetics).
- MESH :
- chemical , genetics : DNA Helicases, Nuclear Proteins, Transcription Factors.
- genetics : Carcinoma, Small Cell, Exome, Mutation, Ovarian Neoplasms.
- Base Sequence, Cell Line, Tumor, Female, Gene Components, Humans, Immunoblotting, Immunohistochemistry, In Situ Hybridization, Fluorescence, Molecular Sequence Data, Sequence Analysis, DNA.
Abstract
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.
DOI: 10.1038/ng.2931
PubMed: 24658002
Affiliations:
- Allemagne, Australie, Canada, France, Grèce, Royaume-Uni, Slovénie, États-Unis
- Angleterre, Angleterre de l'Est, Aquitaine, Attique (région), Caroline du Nord, District de Münster, Indiana, Kentucky, Nouvelle-Aquitaine, Québec, Rhénanie-du-Nord-Westphalie, Schleswig-Holstein
- Athènes, Bordeaux, Cambridge, Kiel, Montréal, Münster
- Université McGill, Université de Cambridge
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Le document en format XML
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[2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Carrot Zhang, Jian" sort="Carrot Zhang, Jian" uniqKey="Carrot Zhang J" first="Jian" last="Carrot-Zhang">Jian Carrot-Zhang</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada. [3].</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Albrecht, Steffen" sort="Albrecht, Steffen" uniqKey="Albrecht S" first="Steffen" last="Albrecht">Steffen Albrecht</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Hamel, Nancy" sort="Hamel, Nancy" uniqKey="Hamel N" first="Nancy" last="Hamel">Nancy Hamel</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Tomiak, Eva" sort="Tomiak, Eva" uniqKey="Tomiak E" first="Eva" last="Tomiak">Eva Tomiak</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Grynspan, David" sort="Grynspan, David" uniqKey="Grynspan D" first="David" last="Grynspan">David Grynspan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Saloustros, Emmanouil" sort="Saloustros, Emmanouil" uniqKey="Saloustros E" first="Emmanouil" last="Saloustros">Emmanouil Saloustros</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion</wicri:regionArea><wicri:noRegion>Heraklion</wicri:noRegion></affiliation></author><author><name sortKey="Nadaf, Javad" sort="Nadaf, Javad" uniqKey="Nadaf J" first="Javad" last="Nadaf">Javad Nadaf</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Rivera, Barbara" sort="Rivera, Barbara" uniqKey="Rivera B" first="Barbara" last="Rivera">Barbara Rivera</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Gilpin, Catherine" sort="Gilpin, Catherine" uniqKey="Gilpin C" first="Catherine" last="Gilpin">Catherine Gilpin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Castellsague, Ester" sort="Castellsague, Ester" uniqKey="Castellsague E" first="Ester" last="Castellsagué">Ester Castellsagué</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Silva Smith, Rachel" sort="Silva Smith, Rachel" uniqKey="Silva Smith R" first="Rachel" last="Silva-Smith">Rachel Silva-Smith</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Plourde, Francois" sort="Plourde, Francois" uniqKey="Plourde F" first="François" last="Plourde">François Plourde</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Wu, Mona" sort="Wu, Mona" uniqKey="Wu M" first="Mona" last="Wu">Mona Wu</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Saskin, Avi" sort="Saskin, Avi" uniqKey="Saskin A" first="Avi" last="Saskin">Avi Saskin</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Arseneault, Madeleine" sort="Arseneault, Madeleine" uniqKey="Arseneault M" first="Madeleine" last="Arseneault">Madeleine Arseneault</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Karabakhtsian, Rouzan G" sort="Karabakhtsian, Rouzan G" uniqKey="Karabakhtsian R" first="Rouzan G" last="Karabakhtsian">Rouzan G. Karabakhtsian</name><affiliation wicri:level="2"><nlm:affiliation>1] Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA. [2].</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>1] Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Reilly, Elizabeth A" sort="Reilly, Elizabeth A" uniqKey="Reilly E" first="Elizabeth A" last="Reilly">Elizabeth A. Reilly</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Ueland, Frederick R" sort="Ueland, Frederick R" uniqKey="Ueland F" first="Frederick R" last="Ueland">Frederick R. Ueland</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Margiolaki, Anna" sort="Margiolaki, Anna" uniqKey="Margiolaki A" first="Anna" last="Margiolaki">Anna Margiolaki</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion</wicri:regionArea><wicri:noRegion>Heraklion</wicri:noRegion></affiliation></author><author><name sortKey="Pavlakis, Kitty" sort="Pavlakis, Kitty" uniqKey="Pavlakis K" first="Kitty" last="Pavlakis">Kitty Pavlakis</name><affiliation wicri:level="3"><nlm:affiliation>Pathology Department, National and Kapodistrian University of Athens, Athens, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Pathology Department, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Castellino, Sharon M" sort="Castellino, Sharon M" uniqKey="Castellino S" first="Sharon M" last="Castellino">Sharon M. Castellino</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Hematology/Oncology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Hematology/Oncology, Wake Forest School of Medicine, Winston-Salem, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Lamovec, Janez" sort="Lamovec, Janez" uniqKey="Lamovec J" first="Janez" last="Lamovec">Janez Lamovec</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Institute of Oncology, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Department of Pathology, Institute of Oncology, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Mackay, Helen J" sort="Mackay, Helen J" uniqKey="Mackay H" first="Helen J" last="Mackay">Helen J. Mackay</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Oncology, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Oncology, Princess Margaret Cancer Centre, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Roth, Lawrence M" sort="Roth, Lawrence M" uniqKey="Roth L" first="Lawrence M" last="Roth">Lawrence M. Roth</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Ulbright, Thomas M" sort="Ulbright, Thomas M" uniqKey="Ulbright T" first="Thomas M" last="Ulbright">Thomas M. Ulbright</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Bender, Tracey A" sort="Bender, Tracey A" uniqKey="Bender T" first="Tracey A" last="Bender">Tracey A. Bender</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Georgoulias, Vassilis" sort="Georgoulias, Vassilis" uniqKey="Georgoulias V" first="Vassilis" last="Georgoulias">Vassilis Georgoulias</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion</wicri:regionArea><wicri:noRegion>Heraklion</wicri:noRegion></affiliation></author><author><name sortKey="Longy, Michel" sort="Longy, Michel" uniqKey="Longy M" first="Michel" last="Longy">Michel Longy</name><affiliation wicri:level="3"><nlm:affiliation>Institut Bergonié, Unité d'Oncogénétique, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Bergonié, Unité d'Oncogénétique, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Berchuck, Andrew" sort="Berchuck, Andrew" uniqKey="Berchuck A" first="Andrew" last="Berchuck">Andrew Berchuck</name><affiliation wicri:level="2"><nlm:affiliation>Division of Gynecologic Oncology, Duke University Medical Center, Durham, North Carolina, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Gynecologic Oncology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medical Genetics, University of Cambridge, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medical Genetics, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Stewart, Colin J R" sort="Stewart, Colin J R" uniqKey="Stewart C" first="Colin J R" last="Stewart">Colin J R. Stewart</name><affiliation wicri:level="1"><nlm:affiliation>School for Women's and Infants' Health, University of Western Australia, Perth, Western Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School for Women's and Infants' Health, University of Western Australia, Perth, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Arseneau, Jocelyne" sort="Arseneau, Jocelyne" uniqKey="Arseneau J" first="Jocelyne" last="Arseneau">Jocelyne Arseneau</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Royal Victoria Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Royal Victoria Hospital, McGill University Health Centre, McGill University, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Mccluggage, W Glenn" sort="Mccluggage, W Glenn" uniqKey="Mccluggage W" first="W Glenn" last="Mccluggage">W Glenn Mccluggage</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Royal Group of Hospitals Trust, Belfast, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Pathology, Royal Group of Hospitals Trust, Belfast</wicri:regionArea><wicri:noRegion>Belfast</wicri:noRegion></affiliation></author><author><name sortKey="Clarke, Blaise A" sort="Clarke, Blaise A" uniqKey="Clarke B" first="Blaise A" last="Clarke">Blaise A. Clarke</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology Laboratory Medicine Program, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Riazalhosseini, Yasser" sort="Riazalhosseini, Yasser" uniqKey="Riazalhosseini Y" first="Yasser" last="Riazalhosseini">Yasser Riazalhosseini</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Hasselblatt, Martin" sort="Hasselblatt, Martin" uniqKey="Hasselblatt M" first="Martin" last="Hasselblatt">Martin Hasselblatt</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Neuropathology, University Hospital-Münster, Münster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neuropathology, University Hospital-Münster, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D" last="Foulkes">William D. Foulkes</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24658002</idno><idno type="pmid">24658002</idno><idno type="doi">10.1038/ng.2931</idno><idno type="wicri:Area/PubMed/Corpus">003782</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003782</idno><idno type="wicri:Area/PubMed/Curation">003668</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003668</idno><idno type="wicri:Area/PubMed/Checkpoint">003668</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003668</idno><idno type="wicri:Area/Ncbi/Merge">001889</idno><idno type="wicri:Area/Ncbi/Curation">001889</idno><idno type="wicri:Area/Ncbi/Checkpoint">001889</idno><idno type="wicri:Area/Main/Merge">003938</idno><idno type="wicri:Area/Main/Curation">003902</idno><idno type="wicri:Area/Main/Exploration">003902</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.</title><author><name sortKey="Witkowski, Leora" sort="Witkowski, Leora" uniqKey="Witkowski L" first="Leora" last="Witkowski">Leora Witkowski</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [3].</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Carrot Zhang, Jian" sort="Carrot Zhang, Jian" uniqKey="Carrot Zhang J" first="Jian" last="Carrot-Zhang">Jian Carrot-Zhang</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada. [3].</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Albrecht, Steffen" sort="Albrecht, Steffen" uniqKey="Albrecht S" first="Steffen" last="Albrecht">Steffen Albrecht</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Hamel, Nancy" sort="Hamel, Nancy" uniqKey="Hamel N" first="Nancy" last="Hamel">Nancy Hamel</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Tomiak, Eva" sort="Tomiak, Eva" uniqKey="Tomiak E" first="Eva" last="Tomiak">Eva Tomiak</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Grynspan, David" sort="Grynspan, David" uniqKey="Grynspan D" first="David" last="Grynspan">David Grynspan</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Saloustros, Emmanouil" sort="Saloustros, Emmanouil" uniqKey="Saloustros E" first="Emmanouil" last="Saloustros">Emmanouil Saloustros</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion</wicri:regionArea><wicri:noRegion>Heraklion</wicri:noRegion></affiliation></author><author><name sortKey="Nadaf, Javad" sort="Nadaf, Javad" uniqKey="Nadaf J" first="Javad" last="Nadaf">Javad Nadaf</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Rivera, Barbara" sort="Rivera, Barbara" uniqKey="Rivera B" first="Barbara" last="Rivera">Barbara Rivera</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Gilpin, Catherine" sort="Gilpin, Catherine" uniqKey="Gilpin C" first="Catherine" last="Gilpin">Catherine Gilpin</name><affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Castellsague, Ester" sort="Castellsague, Ester" uniqKey="Castellsague E" first="Ester" last="Castellsagué">Ester Castellsagué</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Silva Smith, Rachel" sort="Silva Smith, Rachel" uniqKey="Silva Smith R" first="Rachel" last="Silva-Smith">Rachel Silva-Smith</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Plourde, Francois" sort="Plourde, Francois" uniqKey="Plourde F" first="François" last="Plourde">François Plourde</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Wu, Mona" sort="Wu, Mona" uniqKey="Wu M" first="Mona" last="Wu">Mona Wu</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Saskin, Avi" sort="Saskin, Avi" uniqKey="Saskin A" first="Avi" last="Saskin">Avi Saskin</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Human Genetics, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Arseneault, Madeleine" sort="Arseneault, Madeleine" uniqKey="Arseneault M" first="Madeleine" last="Arseneault">Madeleine Arseneault</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Karabakhtsian, Rouzan G" sort="Karabakhtsian, Rouzan G" uniqKey="Karabakhtsian R" first="Rouzan G" last="Karabakhtsian">Rouzan G. Karabakhtsian</name><affiliation wicri:level="2"><nlm:affiliation>1] Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA. [2].</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>1] Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Reilly, Elizabeth A" sort="Reilly, Elizabeth A" uniqKey="Reilly E" first="Elizabeth A" last="Reilly">Elizabeth A. Reilly</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Ueland, Frederick R" sort="Ueland, Frederick R" uniqKey="Ueland F" first="Frederick R" last="Ueland">Frederick R. Ueland</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Markey Cancer Center, University of Kentucky, Lexington, Kentucky</wicri:regionArea><placeName><region type="state">Kentucky</region></placeName></affiliation></author><author><name sortKey="Margiolaki, Anna" sort="Margiolaki, Anna" uniqKey="Margiolaki A" first="Anna" last="Margiolaki">Anna Margiolaki</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion</wicri:regionArea><wicri:noRegion>Heraklion</wicri:noRegion></affiliation></author><author><name sortKey="Pavlakis, Kitty" sort="Pavlakis, Kitty" uniqKey="Pavlakis K" first="Kitty" last="Pavlakis">Kitty Pavlakis</name><affiliation wicri:level="3"><nlm:affiliation>Pathology Department, National and Kapodistrian University of Athens, Athens, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Pathology Department, National and Kapodistrian University of Athens, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Castellino, Sharon M" sort="Castellino, Sharon M" uniqKey="Castellino S" first="Sharon M" last="Castellino">Sharon M. Castellino</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Hematology/Oncology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Hematology/Oncology, Wake Forest School of Medicine, Winston-Salem, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Lamovec, Janez" sort="Lamovec, Janez" uniqKey="Lamovec J" first="Janez" last="Lamovec">Janez Lamovec</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Institute of Oncology, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Department of Pathology, Institute of Oncology, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Mackay, Helen J" sort="Mackay, Helen J" uniqKey="Mackay H" first="Helen J" last="Mackay">Helen J. Mackay</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Oncology, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Oncology, Princess Margaret Cancer Centre, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Roth, Lawrence M" sort="Roth, Lawrence M" uniqKey="Roth L" first="Lawrence M" last="Roth">Lawrence M. Roth</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Ulbright, Thomas M" sort="Ulbright, Thomas M" uniqKey="Ulbright T" first="Thomas M" last="Ulbright">Thomas M. Ulbright</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Bender, Tracey A" sort="Bender, Tracey A" uniqKey="Bender T" first="Tracey A" last="Bender">Tracey A. Bender</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Georgoulias, Vassilis" sort="Georgoulias, Vassilis" uniqKey="Georgoulias V" first="Vassilis" last="Georgoulias">Vassilis Georgoulias</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.</nlm:affiliation><country xml:lang="fr">Grèce</country><wicri:regionArea>Hereditary Cancer Clinic, Department of Medical Oncology, University Hospital of Heraklion, Heraklion</wicri:regionArea><wicri:noRegion>Heraklion</wicri:noRegion></affiliation></author><author><name sortKey="Longy, Michel" sort="Longy, Michel" uniqKey="Longy M" first="Michel" last="Longy">Michel Longy</name><affiliation wicri:level="3"><nlm:affiliation>Institut Bergonié, Unité d'Oncogénétique, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Bergonié, Unité d'Oncogénétique, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Berchuck, Andrew" sort="Berchuck, Andrew" uniqKey="Berchuck A" first="Andrew" last="Berchuck">Andrew Berchuck</name><affiliation wicri:level="2"><nlm:affiliation>Division of Gynecologic Oncology, Duke University Medical Center, Durham, North Carolina, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Gynecologic Oncology, Duke University Medical Center, Durham, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name><affiliation wicri:level="4"><nlm:affiliation>Department of Medical Genetics, University of Cambridge, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Medical Genetics, University of Cambridge, Cambridge</wicri:regionArea><orgName type="university">Université de Cambridge</orgName><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName></affiliation></author><author><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Christian Albrechts University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Stewart, Colin J R" sort="Stewart, Colin J R" uniqKey="Stewart C" first="Colin J R" last="Stewart">Colin J R. Stewart</name><affiliation wicri:level="1"><nlm:affiliation>School for Women's and Infants' Health, University of Western Australia, Perth, Western Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School for Women's and Infants' Health, University of Western Australia, Perth, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Arseneau, Jocelyne" sort="Arseneau, Jocelyne" uniqKey="Arseneau J" first="Jocelyne" last="Arseneau">Jocelyne Arseneau</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Royal Victoria Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology, Royal Victoria Hospital, McGill University Health Centre, McGill University, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Mccluggage, W Glenn" sort="Mccluggage, W Glenn" uniqKey="Mccluggage W" first="W Glenn" last="Mccluggage">W Glenn Mccluggage</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Royal Group of Hospitals Trust, Belfast, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Pathology, Royal Group of Hospitals Trust, Belfast</wicri:regionArea><wicri:noRegion>Belfast</wicri:noRegion></affiliation></author><author><name sortKey="Clarke, Blaise A" sort="Clarke, Blaise A" uniqKey="Clarke B" first="Blaise A" last="Clarke">Blaise A. Clarke</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pathology Laboratory Medicine Program, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Riazalhosseini, Yasser" sort="Riazalhosseini, Yasser" uniqKey="Riazalhosseini Y" first="Yasser" last="Riazalhosseini">Yasser Riazalhosseini</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Hasselblatt, Martin" sort="Hasselblatt, Martin" uniqKey="Hasselblatt M" first="Martin" last="Hasselblatt">Martin Hasselblatt</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Neuropathology, University Hospital-Münster, Münster, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Neuropathology, University Hospital-Münster, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><affiliation wicri:level="4"><nlm:affiliation>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [2] McGill University and Génome Québec Innovation Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D" last="Foulkes">William D. Foulkes</name><affiliation wicri:level="4"><nlm:affiliation>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>1] Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada. [2] Department of Medical Genetics, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. [3] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [4] Department of Medical Genetics, Research Institute, McGill University Health Centre, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="eISSN">1546-1718</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Base Sequence</term><term>Carcinoma, Small Cell (genetics)</term><term>Cell Line, Tumor</term><term>DNA Helicases (genetics)</term><term>Exome (genetics)</term><term>Female</term><term>Gene Components</term><term>Humans</term><term>Immunoblotting</term><term>Immunohistochemistry</term><term>In Situ Hybridization, Fluorescence</term><term>Molecular Sequence Data</term><term>Mutation (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Ovarian Neoplasms (genetics)</term><term>Sequence Analysis, DNA</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Carcinome à petites cellules (génétique)</term><term>Composants de gène</term><term>Données de séquences moléculaires</term><term>Exome (génétique)</term><term>Facteurs de transcription (génétique)</term><term>Femelle</term><term>Helicase (génétique)</term><term>Humains</term><term>Immunohistochimie</term><term>Immunotransfert</term><term>Lignée cellulaire tumorale</term><term>Mutation (génétique)</term><term>Protéines nucléaires (génétique)</term><term>Séquence nucléotidique</term><term>Technique FISH</term><term>Tumeurs de l'ovaire (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Helicases</term><term>Nuclear Proteins</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Carcinoma, Small Cell</term><term>Exome</term><term>Mutation</term><term>Ovarian Neoplasms</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Carcinome à petites cellules</term><term>Exome</term><term>Facteurs de transcription</term><term>Helicase</term><term>Mutation</term><term>Protéines nucléaires</term><term>Tumeurs de l'ovaire</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term><term>Cell Line, Tumor</term><term>Female</term><term>Gene Components</term><term>Humans</term><term>Immunoblotting</term><term>Immunohistochemistry</term><term>In Situ Hybridization, Fluorescence</term><term>Molecular Sequence Data</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Composants de gène</term><term>Données de séquences moléculaires</term><term>Femelle</term><term>Humains</term><term>Immunohistochimie</term><term>Immunotransfert</term><term>Lignée cellulaire tumorale</term><term>Séquence nucléotidique</term><term>Technique FISH</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Canada</li><li>France</li><li>Grèce</li><li>Royaume-Uni</li><li>Slovénie</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Angleterre de l'Est</li><li>Aquitaine</li><li>Attique (région)</li><li>Caroline du Nord</li><li>District de Münster</li><li>Indiana</li><li>Kentucky</li><li>Nouvelle-Aquitaine</li><li>Québec</li><li>Rhénanie-du-Nord-Westphalie</li><li>Schleswig-Holstein</li></region><settlement><li>Athènes</li><li>Bordeaux</li><li>Cambridge</li><li>Kiel</li><li>Montréal</li><li>Münster</li></settlement><orgName><li>Université McGill</li><li>Université de Cambridge</li></orgName></list><tree><country name="Canada"><region name="Québec"><name sortKey="Witkowski, Leora" sort="Witkowski, Leora" uniqKey="Witkowski L" first="Leora" last="Witkowski">Leora Witkowski</name></region><name sortKey="Albrecht, Steffen" sort="Albrecht, Steffen" uniqKey="Albrecht S" first="Steffen" last="Albrecht">Steffen Albrecht</name><name sortKey="Arseneau, Jocelyne" sort="Arseneau, Jocelyne" uniqKey="Arseneau J" first="Jocelyne" last="Arseneau">Jocelyne Arseneau</name><name sortKey="Arseneault, Madeleine" sort="Arseneault, Madeleine" uniqKey="Arseneault M" first="Madeleine" last="Arseneault">Madeleine Arseneault</name><name sortKey="Carrot Zhang, Jian" sort="Carrot Zhang, Jian" uniqKey="Carrot Zhang J" first="Jian" last="Carrot-Zhang">Jian Carrot-Zhang</name><name sortKey="Castellsague, Ester" sort="Castellsague, Ester" uniqKey="Castellsague E" first="Ester" last="Castellsagué">Ester Castellsagué</name><name sortKey="Clarke, Blaise A" sort="Clarke, Blaise A" uniqKey="Clarke B" first="Blaise A" last="Clarke">Blaise A. Clarke</name><name sortKey="Fahiminiya, Somayyeh" sort="Fahiminiya, Somayyeh" uniqKey="Fahiminiya S" first="Somayyeh" last="Fahiminiya">Somayyeh Fahiminiya</name><name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D" last="Foulkes">William D. Foulkes</name><name sortKey="Gilpin, Catherine" sort="Gilpin, Catherine" uniqKey="Gilpin C" first="Catherine" last="Gilpin">Catherine Gilpin</name><name sortKey="Grynspan, David" sort="Grynspan, David" uniqKey="Grynspan D" first="David" last="Grynspan">David Grynspan</name><name sortKey="Hamel, Nancy" sort="Hamel, Nancy" uniqKey="Hamel N" first="Nancy" last="Hamel">Nancy Hamel</name><name sortKey="Mackay, Helen J" sort="Mackay, Helen J" uniqKey="Mackay H" first="Helen J" last="Mackay">Helen J. Mackay</name><name sortKey="Majewski, Jacek" sort="Majewski, Jacek" uniqKey="Majewski J" first="Jacek" last="Majewski">Jacek Majewski</name><name sortKey="Nadaf, Javad" sort="Nadaf, Javad" uniqKey="Nadaf J" first="Javad" last="Nadaf">Javad Nadaf</name><name sortKey="Plourde, Francois" sort="Plourde, Francois" uniqKey="Plourde F" first="François" last="Plourde">François Plourde</name><name sortKey="Riazalhosseini, Yasser" sort="Riazalhosseini, Yasser" uniqKey="Riazalhosseini Y" first="Yasser" last="Riazalhosseini">Yasser Riazalhosseini</name><name sortKey="Rivera, Barbara" sort="Rivera, Barbara" uniqKey="Rivera B" first="Barbara" last="Rivera">Barbara Rivera</name><name sortKey="Saskin, Avi" sort="Saskin, Avi" uniqKey="Saskin A" first="Avi" last="Saskin">Avi Saskin</name><name sortKey="Silva Smith, Rachel" sort="Silva Smith, Rachel" uniqKey="Silva Smith R" first="Rachel" last="Silva-Smith">Rachel Silva-Smith</name><name sortKey="Tomiak, Eva" sort="Tomiak, Eva" uniqKey="Tomiak E" first="Eva" last="Tomiak">Eva Tomiak</name><name sortKey="Wu, Mona" sort="Wu, Mona" uniqKey="Wu M" first="Mona" last="Wu">Mona Wu</name></country><country name="Grèce"><noRegion><name sortKey="Saloustros, Emmanouil" sort="Saloustros, Emmanouil" uniqKey="Saloustros E" first="Emmanouil" last="Saloustros">Emmanouil Saloustros</name></noRegion><name sortKey="Georgoulias, Vassilis" sort="Georgoulias, Vassilis" uniqKey="Georgoulias V" first="Vassilis" last="Georgoulias">Vassilis Georgoulias</name><name sortKey="Margiolaki, Anna" sort="Margiolaki, Anna" uniqKey="Margiolaki A" first="Anna" last="Margiolaki">Anna Margiolaki</name><name sortKey="Pavlakis, Kitty" sort="Pavlakis, Kitty" uniqKey="Pavlakis K" first="Kitty" last="Pavlakis">Kitty Pavlakis</name></country><country name="États-Unis"><region name="Kentucky"><name sortKey="Karabakhtsian, Rouzan G" sort="Karabakhtsian, Rouzan G" uniqKey="Karabakhtsian R" first="Rouzan G" last="Karabakhtsian">Rouzan G. Karabakhtsian</name></region><name sortKey="Bender, Tracey A" sort="Bender, Tracey A" uniqKey="Bender T" first="Tracey A" last="Bender">Tracey A. Bender</name><name sortKey="Berchuck, Andrew" sort="Berchuck, Andrew" uniqKey="Berchuck A" first="Andrew" last="Berchuck">Andrew Berchuck</name><name sortKey="Castellino, Sharon M" sort="Castellino, Sharon M" uniqKey="Castellino S" first="Sharon M" last="Castellino">Sharon M. Castellino</name><name sortKey="Reilly, Elizabeth A" sort="Reilly, Elizabeth A" uniqKey="Reilly E" first="Elizabeth A" last="Reilly">Elizabeth A. Reilly</name><name sortKey="Roth, Lawrence M" sort="Roth, Lawrence M" uniqKey="Roth L" first="Lawrence M" last="Roth">Lawrence M. Roth</name><name sortKey="Ueland, Frederick R" sort="Ueland, Frederick R" uniqKey="Ueland F" first="Frederick R" last="Ueland">Frederick R. Ueland</name><name sortKey="Ulbright, Thomas M" sort="Ulbright, Thomas M" uniqKey="Ulbright T" first="Thomas M" last="Ulbright">Thomas M. Ulbright</name></country><country name="Slovénie"><noRegion><name sortKey="Lamovec, Janez" sort="Lamovec, Janez" uniqKey="Lamovec J" first="Janez" last="Lamovec">Janez Lamovec</name></noRegion></country><country name="France"><region name="Nouvelle-Aquitaine"><name sortKey="Longy, Michel" sort="Longy, Michel" uniqKey="Longy M" first="Michel" last="Longy">Michel Longy</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name></region><name sortKey="Mccluggage, W Glenn" sort="Mccluggage, W Glenn" uniqKey="Mccluggage W" first="W Glenn" last="Mccluggage">W Glenn Mccluggage</name></country><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Nagel, Inga" sort="Nagel, Inga" uniqKey="Nagel I" first="Inga" last="Nagel">Inga Nagel</name></region><name sortKey="Hasselblatt, Martin" sort="Hasselblatt, Martin" uniqKey="Hasselblatt M" first="Martin" last="Hasselblatt">Martin Hasselblatt</name><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name></country><country name="Australie"><noRegion><name sortKey="Stewart, Colin J R" sort="Stewart, Colin J R" uniqKey="Stewart C" first="Colin J R" last="Stewart">Colin J R. Stewart</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:24658002
|texte= Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:24658002" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |