Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma
Identifieur interne : 006263 ( Main/Exploration ); précédent : 006262; suivant : 006264Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma
Auteurs : Betty Gardie [France] ; Audrey Remenieras [France] ; Darouna Kattygnarath [France] ; Johny Bombled [France] ; Sandrine Lefèvre [France] ; Victoria Perrier-Trudova [France] ; Pierre Rustin [France] ; Michel Barrois [France] ; Abdelhamid Slama [France] ; Marie-Françoise Avril [France] ; Didier Bessis [France] ; Olivier Caron [France] ; Frédéric Caux [France] ; Patrick Collignon [France] ; Isabelle Coupier [France] ; Carol Cremin [Canada] ; Hélène Dollfus [France] ; Catherine Dugast [France] ; Bernard Escudier [France] ; Laurence Faivre [France] ; Michel Field [Australie] ; Brigitte Gilbert-Dussardier [France] ; Nicolas Janin [Belgique] ; Yves Leport [France] ; Dominique Leroux [France] ; Dan Lipsker [France] ; Félicia Malthieu [France] ; Barbara Mcgilliwray [Canada] ; Christine Maugard [Canada] ; Arnaud Méjean [France] ; Isabelle Mortemousque [France] ; Ghislaine Plessis [France] ; Bruce Poppe [Belgique] ; Christelle Pruvost-Balland [France] ; Serena Rooker [Nouvelle-Zélande] ; Joelle Roume [France] ; Nadem Soufir [France] ; Michelle Steinraths [Canada] ; Min-Han Tan [Singapour] ; Christine Théodore [France] ; Luc Thomas [France] ; Pierre Vabres [France] ; Emmanuel Van Glabeke [France] ; Jean-Baptiste Meric [France] ; Virginie Verkarre [France] ; Gilbert Lenoir [France] ; Virginie Joulin [France] ; Sophie Deveaux [France] ; Veronica Cusin [France] ; Jean Feunteun [France] ; Bin Tean Teh [États-Unis] ; Brigitte Bressac-De Paillerets [France] ; Stéphane Richard [France]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2011-04.
English descriptors
- KwdEn :
- Aaltonen, Cancer institute, Cancerologie gustave roussy, Carcinoma, Cell cancers, Clin, Cutaneous, Cutaneous leiomyomas, Deletion, Dermatol, Dermatologie, Enzymatic activity, Exon, Fumarase, Fumarate, Fumarate hydratase, Fumarate hydratase gene, Fumarate hydratase mutations, Genet, Genetic testing, Genetique, Genetique medicale, Germline, Germline mutations, Hereditary, Hereditary leiomyomatosis, Herva, Hlrcc, Hopital, Hydratase, Incomplete penetrance, Kidney cancer, Launonen, Lehtonen, Leiomyoma, Leiomyomatosis, Linehan, Lymphoblastoid cells, Medicale, Missense, Missense mutations, Multiple cutaneous, Mutation, Nonsense mutations, Novel mutations, Papillary, Phenotype, Prccii, Renal, Renal cancer, Renal cell cancer, Renal cell carcinoma, Renal tumours, Splice, Splice site mutations, Tomlinson, Tumour, Uterine, Uterine leiomyomas, Uterine leiomyomata, Uterine leiomyomatosis.
- Teeft :
- Aaltonen, Cancer institute, Cancerologie gustave roussy, Carcinoma, Cell cancers, Clin, Cutaneous, Cutaneous leiomyomas, Deletion, Dermatol, Dermatologie, Enzymatic activity, Exon, Fumarase, Fumarate, Fumarate hydratase, Fumarate hydratase gene, Fumarate hydratase mutations, Genet, Genetic testing, Genetique, Genetique medicale, Germline, Germline mutations, Hereditary, Hereditary leiomyomatosis, Herva, Hlrcc, Hopital, Hydratase, Incomplete penetrance, Kidney cancer, Launonen, Lehtonen, Leiomyoma, Leiomyomatosis, Linehan, Lymphoblastoid cells, Medicale, Missense, Missense mutations, Multiple cutaneous, Mutation, Nonsense mutations, Novel mutations, Papillary, Phenotype, Prccii, Renal, Renal cancer, Renal cell cancer, Renal cell carcinoma, Renal tumours, Splice, Splice site mutations, Tomlinson, Tumour, Uterine, Uterine leiomyomas, Uterine leiomyomata, Uterine leiomyomatosis.
Abstract
Background Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) also occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumour suppressor fumarate hydratase (FH) gene. Methods As part of the French National Cancer Institute (INCa) ‘Inherited predispositions to kidney cancer’ network, sequence analysis and a functional study of FH were preformed in 56 families with clinically proven or suspected HLRCC and in 23 patients with isolated PRCCII (5 familial and 18 sporadic). Results The study identified 32 different germline FH mutations (15 missense, 6 frameshifts, 4 nonsense, 1 deletion/insertion, 5 splice site, and 1 complete deletion) in 40/56 (71.4%) families with proven or suspected HLRCC and in 4/23 (17.4%) probands with PRCCII alone, including 2 sporadic cases. 21 of these were novel and all were demonstrated as deleterious by significant reduction of FH enzymatic activity. In addition, 5 asymptomatic parents in 3 families were confirmed as carrying disease-causing mutations. Conclusions This study identified and characterised 21 novel FH mutations and demonstrated that PRCCII can be the only one manifestation of HLRCC. Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal tumour harbours characteristic histologic features, in order to discover previously ignored HLRCC affected families.
Url:
DOI: 10.1136/jmg.2010.085068
Affiliations:
- Australie, Belgique, Canada, France, Nouvelle-Zélande, Singapour, États-Unis
- Alsace (région administrative), Auvergne-Rhône-Alpes, Basse-Normandie, Bourgogne, Bourgogne-Franche-Comté, Centre-Val de Loire, Grand Est, Hauts-de-France, Languedoc-Roussillon, Michigan, Nord-Pas-de-Calais, Nouvelle-Aquitaine, Occitanie (région administrative), Poitou-Charentes, Provence-Alpes-Côte d'Azur, Province de Flandre-Orientale, Rhône-Alpes, Région Bretagne, Région Centre, Région Normandie, Région flamande, Île-de-France
- Bobigny, Caen, Dijon, Gand, Grenoble, Lyon, Montpellier, Montreuil (Pas-de-Calais), Paris, Poitiers, Rennes, Strasbourg, Toulon, Tours, Vire
- Université de Gand
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uniqKey="Remenieras A" first="Audrey" last="Remenieras">Audrey Remenieras</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Kattygnarath, Darouna" sort="Kattygnarath, Darouna" uniqKey="Kattygnarath D" first="Darouna" last="Kattygnarath">Darouna Kattygnarath</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Bombled, Johny" sort="Bombled, Johny" uniqKey="Bombled J" first="Johny" last="Bombled">Johny Bombled</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Lefevre, Sandrine" sort="Lefevre, Sandrine" uniqKey="Lefevre S" first="Sandrine" last="Lefèvre">Sandrine Lefèvre</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Génétique Oncologique EPHE, INSERM U753, Institut de cancérologie Gustave Roussy Villejuif; and Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Perrier Trudova, Victoria" sort="Perrier Trudova, Victoria" uniqKey="Perrier Trudova V" first="Victoria" last="Perrier-Trudova">Victoria Perrier-Trudova</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Génétique Oncologique EPHE, INSERM U753, Institut de cancérologie Gustave Roussy Villejuif; and Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Rustin, Pierre" sort="Rustin, Pierre" uniqKey="Rustin P" first="Pierre" last="Rustin">Pierre Rustin</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U676, Paris, and Université Paris 7, Faculté de médecine Denis Diderot, IFR02, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Barrois, Michel" sort="Barrois, Michel" uniqKey="Barrois M" first="Michel" last="Barrois">Michel Barrois</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Slama, Abdelhamid" sort="Slama, Abdelhamid" uniqKey="Slama A" first="Abdelhamid" last="Slama">Abdelhamid Slama</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie, Hôpital de Bicêtre, AP-HP, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital Cochin, AP-HP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Bessis, Didier" sort="Bessis, Didier" uniqKey="Bessis D" first="Didier" last="Bessis">Didier Bessis</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital Saint-Eloi, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Caron, Olivier" sort="Caron, Olivier" uniqKey="Caron O" first="Olivier" last="Caron">Olivier Caron</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'Oncogénétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Caux, Frederic" sort="Caux, Frederic" uniqKey="Caux F" first="Frédéric" last="Caux">Frédéric Caux</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital Avicenne, AP-HP, Bobigny</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Bobigny</settlement></placeName></affiliation></author><author><name sortKey="Collignon, Patrick" sort="Collignon, Patrick" uniqKey="Collignon P" first="Patrick" last="Collignon">Patrick Collignon</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Centre Hospitalier Intercommunal, Toulon</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Toulon</settlement></placeName></affiliation></author><author><name sortKey="Coupier, Isabelle" sort="Coupier, Isabelle" uniqKey="Coupier I" first="Isabelle" last="Coupier">Isabelle Coupier</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service d'Oncogénétique et Génétique Médicale, Hôpital A. de Villeneuve, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Cremin, Carol" sort="Cremin, Carol" uniqKey="Cremin C" first="Carol" last="Cremin">Carol Cremin</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>BC Cancer Agency, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Civil, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Dugast, Catherine" sort="Dugast, Catherine" uniqKey="Dugast C" first="Catherine" last="Dugast">Catherine Dugast</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Consultation d'Oncogénétique, CHU, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Escudier, Bernard" sort="Escudier, Bernard" uniqKey="Escudier B" first="Bernard" last="Escudier">Bernard Escudier</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Département d'Immunothérapie, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, CHU Hôpital d'Enfants, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Field, Michel" sort="Field, Michel" uniqKey="Field M" first="Michel" last="Field">Michel Field</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Services, Royal North Shore Hospital, St Leonards</wicri:regionArea><wicri:noRegion>St Leonards</wicri:noRegion></affiliation></author><author><name sortKey="Gilbert Dussardier, Brigitte" sort="Gilbert Dussardier, Brigitte" uniqKey="Gilbert Dussardier B" first="Brigitte" last="Gilbert-Dussardier">Brigitte Gilbert-Dussardier</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU, Poitiers</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Poitou-Charentes</region><settlement type="city">Poitiers</settlement></placeName></affiliation></author><author><name sortKey="Janin, Nicolas" sort="Janin, Nicolas" uniqKey="Janin N" first="Nicolas" last="Janin">Nicolas Janin</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Département de Génétique, CHU, Liège</wicri:regionArea><wicri:noRegion>Liège</wicri:noRegion></affiliation></author><author><name sortKey="Leport, Yves" sort="Leport, Yves" uniqKey="Leport Y" first="Yves" last="Leport">Yves Leport</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Cabinet de Dermatologie, Vire</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Basse-Normandie</region><settlement type="city">Vire</settlement></placeName></affiliation></author><author><name sortKey="Leroux, Dominique" sort="Leroux, Dominique" uniqKey="Leroux D" first="Dominique" last="Leroux">Dominique Leroux</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Michalon, Grenoble</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Grenoble</settlement></placeName></affiliation></author><author><name sortKey="Lipsker, Dan" sort="Lipsker, Dan" uniqKey="Lipsker D" first="Dan" last="Lipsker">Dan Lipsker</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital Civil, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Malthieu, Felicia" sort="Malthieu, Felicia" uniqKey="Malthieu F" first="Félicia" last="Malthieu">Félicia Malthieu</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre médico-chirurgical Atlantique, Puilboreau</wicri:regionArea><wicri:noRegion>Puilboreau</wicri:noRegion><wicri:noRegion>Puilboreau</wicri:noRegion></affiliation></author><author><name sortKey="Mcgilliwray, Barbara" sort="Mcgilliwray, Barbara" uniqKey="Mcgilliwray B" first="Barbara" last="Mcgilliwray">Barbara Mcgilliwray</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>BC Cancer Agency, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Maugard, Christine" sort="Maugard, Christine" uniqKey="Maugard C" first="Christine" last="Maugard">Christine Maugard</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Laboratoire de diagnostic génétique, Hôpital Universitaire de Strasbourg, Strasbourg, France; and CR-CHUM, Université de Montréal, Montréal (QC)</wicri:regionArea><wicri:noRegion>Montréal (QC)</wicri:noRegion></affiliation></author><author><name sortKey="Mejean, Arnaud" sort="Mejean, Arnaud" uniqKey="Mejean A" first="Arnaud" last="Méjean">Arnaud Méjean</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service d'Urologie, Hôpital Necker, AP-HP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Mortemousque, Isabelle" sort="Mortemousque, Isabelle" uniqKey="Mortemousque I" first="Isabelle" last="Mortemousque">Isabelle Mortemousque</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Bretonneau, Tours</wicri:regionArea><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU Clémenceau, Caen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Basse-Normandie</region><settlement type="city">Caen</settlement></placeName></affiliation></author><author><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name><affiliation wicri:level="4"><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Universiteit Gent, Gand</wicri:regionArea><orgName type="university">Université de Gand</orgName><placeName><settlement type="city">Gand</settlement><region>Région flamande</region><region type="district" nuts="2">Province de Flandre-Orientale</region></placeName></affiliation></author><author><name sortKey="Pruvost Balland, Christelle" sort="Pruvost Balland, Christelle" uniqKey="Pruvost Balland C" first="Christelle" last="Pruvost-Balland">Christelle Pruvost-Balland</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital Saint Louis, AP-HP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rooker, Serena" sort="Rooker, Serena" uniqKey="Rooker S" first="Serena" last="Rooker">Serena Rooker</name><affiliation wicri:level="1"><country xml:lang="fr">Nouvelle-Zélande</country><wicri:regionArea>Molecular Genetics Laboratory, Capital Coasts DHB, Wellington South</wicri:regionArea><wicri:noRegion>Wellington South</wicri:noRegion></affiliation></author><author><name sortKey="Roume, Joelle" sort="Roume, Joelle" uniqKey="Roume J" first="Joelle" last="Roume">Joelle Roume</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Consultation de Génétique Médicale, Hôpital Ambroise Paré, AP-HP, Boulogne</wicri:regionArea><wicri:noRegion>Boulogne</wicri:noRegion><wicri:noRegion>Boulogne</wicri:noRegion></affiliation></author><author><name sortKey="Soufir, Nadem" sort="Soufir, Nadem" uniqKey="Soufir N" first="Nadem" last="Soufir">Nadem Soufir</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Consultation de Génétique, Hôpital Bichat-Claude Bernard, AP-HP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Steinraths, Michelle" sort="Steinraths, Michelle" uniqKey="Steinraths M" first="Michelle" last="Steinraths">Michelle Steinraths</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Medical Genetics, Victoria General Hospital, Victoria, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Tan, Min Han" sort="Tan, Min Han" uniqKey="Tan M" first="Min-Han" last="Tan">Min-Han Tan</name><affiliation wicri:level="1"><country xml:lang="fr">Singapour</country><wicri:regionArea>Department of Medical Oncology, National Cancer Centre</wicri:regionArea><wicri:noRegion>National Cancer Centre</wicri:noRegion></affiliation></author><author><name sortKey="Theodore, Christine" sort="Theodore, Christine" uniqKey="Theodore C" first="Christine" last="Théodore">Christine Théodore</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service d'Oncologie Médicale, Hôpital Foch, Suresnes</wicri:regionArea><wicri:noRegion>Suresnes</wicri:noRegion><wicri:noRegion>Suresnes</wicri:noRegion></affiliation></author><author><name sortKey="Thomas, Luc" sort="Thomas, Luc" uniqKey="Thomas L" first="Luc" last="Thomas">Luc Thomas</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Centre Hospitalier Sud, Hospices Civils, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Vabres, Pierre" sort="Vabres, Pierre" uniqKey="Vabres P" first="Pierre" last="Vabres">Pierre Vabres</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Hôpital du Bocage, CHU, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Van Glabeke, Emmanuel" sort="Van Glabeke, Emmanuel" uniqKey="Van Glabeke E" first="Emmanuel" last="Van Glabeke">Emmanuel Van Glabeke</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service d'Urologie, Hôpital André Grégoire, Montreuil</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Montreuil (Pas-de-Calais)</settlement></placeName></affiliation></author><author><name sortKey="Meric, Jean Baptiste" sort="Meric, Jean Baptiste" uniqKey="Meric J" first="Jean-Baptiste" last="Meric">Jean-Baptiste Meric</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service d'Onco-Hématologie, Centre Médical de Bligny, Briis sous Forges</wicri:regionArea><wicri:noRegion>Briis sous Forges</wicri:noRegion><wicri:noRegion>Briis sous Forges</wicri:noRegion></affiliation></author><author><name sortKey="Verkarre, Virginie" sort="Verkarre, Virginie" uniqKey="Verkarre V" first="Virginie" last="Verkarre">Virginie Verkarre</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d'Anatomie Pathologique, Hôpital Necker-Enfants Malades, AP-HP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lenoir, Gilbert" sort="Lenoir, Gilbert" uniqKey="Lenoir G" first="Gilbert" last="Lenoir">Gilbert Lenoir</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Joulin, Virginie" sort="Joulin, Virginie" uniqKey="Joulin V" first="Virginie" last="Joulin">Virginie Joulin</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Stabilité génétique et oncogénèse, CNRS UMR 8200, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Deveaux, Sophie" sort="Deveaux, Sophie" uniqKey="Deveaux S" first="Sophie" last="Deveaux">Sophie Deveaux</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Cusin, Veronica" sort="Cusin, Veronica" uniqKey="Cusin V" first="Veronica" last="Cusin">Veronica Cusin</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Feunteun, Jean" sort="Feunteun, Jean" uniqKey="Feunteun J" first="Jean" last="Feunteun">Jean Feunteun</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Stabilité génétique et oncogénèse, CNRS UMR 8200, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Teh, Bin Tean" sort="Teh, Bin Tean" uniqKey="Teh B" first="Bin Tean" last="Teh">Bin Tean Teh</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Van Andel Research Institute, Grand Rapids, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Paillerets, Brigitte Bressac De" sort="Paillerets, Brigitte Bressac De" uniqKey="Paillerets B" first="Brigitte Bressac-De" last="Paillerets">Brigitte Bressac-De Paillerets</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, Institut de cancérologie Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Richard, Stephane" sort="Richard, Stephane" uniqKey="Richard S" first="Stéphane" last="Richard">Stéphane Richard</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Génétique Oncologique EPHE, INSERM U753, Institut de cancérologie Gustave Roussy Villejuif; and Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre Expert National Cancer Rares “PREDIR”, Institut National du Cancer (INCa), Service d'Urologie, Hôpital de Bicêtre, AP-HP, Le Kremlin- Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin- Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2011-04">2011-04</date><biblScope unit="volume">48</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="226">226</biblScope></imprint><idno type="ISSN">0022-2593</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aaltonen</term><term>Cancer institute</term><term>Cancerologie gustave roussy</term><term>Carcinoma</term><term>Cell cancers</term><term>Clin</term><term>Cutaneous</term><term>Cutaneous leiomyomas</term><term>Deletion</term><term>Dermatol</term><term>Dermatologie</term><term>Enzymatic activity</term><term>Exon</term><term>Fumarase</term><term>Fumarate</term><term>Fumarate hydratase</term><term>Fumarate hydratase gene</term><term>Fumarate hydratase mutations</term><term>Genet</term><term>Genetic testing</term><term>Genetique</term><term>Genetique medicale</term><term>Germline</term><term>Germline mutations</term><term>Hereditary</term><term>Hereditary leiomyomatosis</term><term>Herva</term><term>Hlrcc</term><term>Hopital</term><term>Hydratase</term><term>Incomplete penetrance</term><term>Kidney cancer</term><term>Launonen</term><term>Lehtonen</term><term>Leiomyoma</term><term>Leiomyomatosis</term><term>Linehan</term><term>Lymphoblastoid cells</term><term>Medicale</term><term>Missense</term><term>Missense mutations</term><term>Multiple cutaneous</term><term>Mutation</term><term>Nonsense mutations</term><term>Novel mutations</term><term>Papillary</term><term>Phenotype</term><term>Prccii</term><term>Renal</term><term>Renal cancer</term><term>Renal cell cancer</term><term>Renal cell carcinoma</term><term>Renal tumours</term><term>Splice</term><term>Splice site mutations</term><term>Tomlinson</term><term>Tumour</term><term>Uterine</term><term>Uterine leiomyomas</term><term>Uterine leiomyomata</term><term>Uterine leiomyomatosis</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Aaltonen</term><term>Cancer institute</term><term>Cancerologie gustave roussy</term><term>Carcinoma</term><term>Cell cancers</term><term>Clin</term><term>Cutaneous</term><term>Cutaneous leiomyomas</term><term>Deletion</term><term>Dermatol</term><term>Dermatologie</term><term>Enzymatic activity</term><term>Exon</term><term>Fumarase</term><term>Fumarate</term><term>Fumarate hydratase</term><term>Fumarate hydratase gene</term><term>Fumarate hydratase mutations</term><term>Genet</term><term>Genetic testing</term><term>Genetique</term><term>Genetique medicale</term><term>Germline</term><term>Germline mutations</term><term>Hereditary</term><term>Hereditary leiomyomatosis</term><term>Herva</term><term>Hlrcc</term><term>Hopital</term><term>Hydratase</term><term>Incomplete penetrance</term><term>Kidney cancer</term><term>Launonen</term><term>Lehtonen</term><term>Leiomyoma</term><term>Leiomyomatosis</term><term>Linehan</term><term>Lymphoblastoid cells</term><term>Medicale</term><term>Missense</term><term>Missense mutations</term><term>Multiple cutaneous</term><term>Mutation</term><term>Nonsense mutations</term><term>Novel mutations</term><term>Papillary</term><term>Phenotype</term><term>Prccii</term><term>Renal</term><term>Renal cancer</term><term>Renal cell cancer</term><term>Renal cell carcinoma</term><term>Renal tumours</term><term>Splice</term><term>Splice site mutations</term><term>Tomlinson</term><term>Tumour</term><term>Uterine</term><term>Uterine leiomyomas</term><term>Uterine leiomyomata</term><term>Uterine leiomyomatosis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) also occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumour suppressor fumarate hydratase (FH) gene. Methods As part of the French National Cancer Institute (INCa) ‘Inherited predispositions to kidney cancer’ network, sequence analysis and a functional study of FH were preformed in 56 families with clinically proven or suspected HLRCC and in 23 patients with isolated PRCCII (5 familial and 18 sporadic). Results The study identified 32 different germline FH mutations (15 missense, 6 frameshifts, 4 nonsense, 1 deletion/insertion, 5 splice site, and 1 complete deletion) in 40/56 (71.4%) families with proven or suspected HLRCC and in 4/23 (17.4%) probands with PRCCII alone, including 2 sporadic cases. 21 of these were novel and all were demonstrated as deleterious by significant reduction of FH enzymatic activity. In addition, 5 asymptomatic parents in 3 families were confirmed as carrying disease-causing mutations. Conclusions This study identified and characterised 21 novel FH mutations and demonstrated that PRCCII can be the only one manifestation of HLRCC. Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal tumour harbours characteristic histologic features, in order to discover previously ignored HLRCC affected families.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Canada</li><li>France</li><li>Nouvelle-Zélande</li><li>Singapour</li><li>États-Unis</li></country><region><li>Alsace (région administrative)</li><li>Auvergne-Rhône-Alpes</li><li>Basse-Normandie</li><li>Bourgogne</li><li>Bourgogne-Franche-Comté</li><li>Centre-Val de Loire</li><li>Grand Est</li><li>Hauts-de-France</li><li>Languedoc-Roussillon</li><li>Michigan</li><li>Nord-Pas-de-Calais</li><li>Nouvelle-Aquitaine</li><li>Occitanie (région administrative)</li><li>Poitou-Charentes</li><li>Provence-Alpes-Côte d'Azur</li><li>Province de Flandre-Orientale</li><li>Rhône-Alpes</li><li>Région Bretagne</li><li>Région Centre</li><li>Région Normandie</li><li>Région flamande</li><li>Île-de-France</li></region><settlement><li>Bobigny</li><li>Caen</li><li>Dijon</li><li>Gand</li><li>Grenoble</li><li>Lyon</li><li>Montpellier</li><li>Montreuil (Pas-de-Calais)</li><li>Paris</li><li>Poitiers</li><li>Rennes</li><li>Strasbourg</li><li>Toulon</li><li>Tours</li><li>Vire</li></settlement><orgName><li>Université de Gand</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Gardie, Betty" sort="Gardie, Betty" uniqKey="Gardie B" first="Betty" last="Gardie">Betty Gardie</name></noRegion><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name><name sortKey="Barrois, Michel" sort="Barrois, Michel" uniqKey="Barrois M" first="Michel" last="Barrois">Michel Barrois</name><name sortKey="Bessis, Didier" sort="Bessis, Didier" uniqKey="Bessis D" first="Didier" last="Bessis">Didier Bessis</name><name sortKey="Bombled, Johny" sort="Bombled, Johny" uniqKey="Bombled J" first="Johny" last="Bombled">Johny Bombled</name><name sortKey="Caron, Olivier" sort="Caron, Olivier" uniqKey="Caron O" first="Olivier" last="Caron">Olivier Caron</name><name sortKey="Caux, Frederic" sort="Caux, Frederic" uniqKey="Caux F" first="Frédéric" last="Caux">Frédéric Caux</name><name sortKey="Collignon, Patrick" sort="Collignon, Patrick" uniqKey="Collignon P" first="Patrick" last="Collignon">Patrick Collignon</name><name sortKey="Coupier, Isabelle" sort="Coupier, Isabelle" uniqKey="Coupier I" first="Isabelle" last="Coupier">Isabelle Coupier</name><name sortKey="Coupier, Isabelle" sort="Coupier, Isabelle" uniqKey="Coupier I" first="Isabelle" last="Coupier">Isabelle Coupier</name><name sortKey="Cusin, Veronica" sort="Cusin, Veronica" uniqKey="Cusin V" first="Veronica" 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last="Maugard">Christine Maugard</name><name sortKey="Mcgilliwray, Barbara" sort="Mcgilliwray, Barbara" uniqKey="Mcgilliwray B" first="Barbara" last="Mcgilliwray">Barbara Mcgilliwray</name><name sortKey="Steinraths, Michelle" sort="Steinraths, Michelle" uniqKey="Steinraths M" first="Michelle" last="Steinraths">Michelle Steinraths</name></country><country name="Australie"><noRegion><name sortKey="Field, Michel" sort="Field, Michel" uniqKey="Field M" first="Michel" last="Field">Michel Field</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Janin, Nicolas" sort="Janin, Nicolas" uniqKey="Janin N" first="Nicolas" last="Janin">Nicolas Janin</name></noRegion><name sortKey="Poppe, Bruce" sort="Poppe, Bruce" uniqKey="Poppe B" first="Bruce" last="Poppe">Bruce Poppe</name></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Rooker, Serena" sort="Rooker, Serena" uniqKey="Rooker S" first="Serena" last="Rooker">Serena Rooker</name></noRegion></country><country name="Singapour"><noRegion><name sortKey="Tan, Min Han" sort="Tan, Min Han" uniqKey="Tan M" first="Min-Han" last="Tan">Min-Han Tan</name></noRegion></country><country name="États-Unis"><region name="Michigan"><name sortKey="Teh, Bin Tean" sort="Teh, Bin Tean" uniqKey="Teh B" first="Bin Tean" last="Teh">Bin Tean Teh</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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