Article
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Journal of medical genetics - 1 Apr 2011
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, Teh Bin Tean, Bressac-de Paillerets Brigitte, Richard Stéphane
Abstract excerpt
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...
Topics
- Adult
- Aged
- Carcinoma, Renal Cell
- Cell Line, Tumor