Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.

Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol; Dollfus, Hélène; Dugast, Catherine; Escudier, Bernard; Faivre, Laurence; Field, Michel; Gilbert-Dussardier, Brigitte; Janin, Nicolas; Leport, Yves; Leroux, Dominique; Lipsker, Dan; Malthieu, Félicia; McGilliwray, Barbara; Maugard, Christine; Méjean, Arnaud; Mortemousque, Isabelle; Plessis, Ghislaine; Poppe, Bruce; Pruvost-Balland, Christelle; Rooker, Serena; Roume, Joelle; Soufir, Nadem; Steinraths, Michelle; Tan, Min-Han; Théodore, Christine; Thomas, Luc; Vabres, Pierre; Van Glabeke, Emmanuel; Meric, Jean-Baptiste; Verkarre, Virginie; Lenoir, Gilbert; Joulin, Virginie; Deveaux, Sophie; Cusin, Veronica; Feunteun, Jean

Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol; Dollfus, Hélène; Dugast, Catherine; Escudier, Bernard; Faivre, Laurence; Field, Michel; Gilbert-Dussardier, Brigitte; Janin, Nicolas; Leport, Yves; Leroux, Dominique; Lipsker, Dan; Malthieu, Félicia; McGilliwray, Barbara; Maugard, Christine; Méjean, Arnaud; Mortemousque, Isabelle; Plessis, Ghislaine; Poppe, Bruce; Pruvost-Balland, Christelle; Rooker, Serena; Roume, Joelle; Soufir, Nadem; Steinraths, Michelle; Tan, Min-Han; Théodore, Christine; Thomas, Luc; Vabres, Pierre; Van Glabeke, Emmanuel; Meric, Jean-Baptiste; Verkarre, Virginie; Lenoir, Gilbert; Joulin, Virginie; Deveaux, Sophie; Cusin, Veronica; Feunteun, Jean.

Affiliation

Gardie B; Génétique Oncologique EPHE, INSERM U753, Institut de cancérologie Gustave Roussy Villejuif, Faculté de Médecine Paris-Sud, 63 avenue du Général Leclerc, 94276 Le Kremlin-Bicêtre, France.

J Med Genet ; 48(4): 226-34, 2011 Apr.

Article in En | MEDLINE | ID: mdl-21398687

Subject(s)

Carcinoma, Renal Cell/genetics; Fumarate Hydratase/genetics; Kidney Neoplasms/genetics; Mutation; Adult; Aged; Cell Line, Tumor; Codon, Nonsense; Female; Frameshift Mutation; Gene Deletion; Gene Rearrangement; Genotype; Germ-Line Mutation; Humans; INDEL Mutation; Leiomyomatosis/congenital; Leiomyomatosis/genetics; Male; Middle Aged; Mutation, Missense; Neoplastic Syndromes, Hereditary; Pedigree; Skin Neoplasms; Uterine Neoplasms

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carcinoma, Renal Cell / Fumarate Hydratase / Kidney Neoplasms / Mutation Type of study: Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2011 Type: Article Affiliation country: France

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