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-Hélène; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, M.; Slama, Abdelhamid; Avril, M.-F.; Bessis, D.; Caron, Olivier; Caux, F.; Collignon, Patrick; Coupier, I.; Cremin, Carol; Dollfus, Hélène; Dugast, Catherine; Escudier, B.; Faivre, Laurence; Field, Michael; Gilbert‐Dussardier, Brigitte; Janin, Nicolas; Leport, Y.; Leroux, Dominique; Lipsker, Dan; Malthieu, F.; McGilliwray, B.; Maugard, Christine; Méjean, A.; Mortemousque, Isabelle; Plessis, Ghislaine; Poppe, Bruce; Pruvost‐Balland, C.; Rooker, S.; Roume, J.; Soufir, Nadem; Steinraths, M.; Tan, Min; Théodore, Christine; Thomas, L.; Vabres, P.; Van Glabeke, E.; Méric, Jean‐Baptiste; Verkarre, Virginie; Lenoir, Gilbert; Joulin, V.; Deveaux, Sophie; Cusin, Véronica; Feunteun, Jean; Tean Teh, Bin; Bressac–de Paillerets, Brigitte; Richard, Stéphane

doi:10.1136/jmg.2010.085068

Public

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

Published in Journal of Medical Genetics • Mar 12, 2011

Authors:

Betty Gardie

Audrey Remenieras

Darouna Kattygnarath

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...

Subject

Leiomyomatosis

Missense mutation

Germline mutation

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