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

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

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (4), pp.226. ⟨10.1136/jmg.2010.085068⟩
Journal of Medical Genetics, 2011, 48 (4), pp.226. ⟨10.1136/jmg.2010.085068⟩

International audience; 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 (PR

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https://hal.archives-ouvertes.fr/hal-00614499/file/PEER_stage2_10.1136%2Fjmg.2010.085068.pdf