A germline mutation in PBRM1 predisposes to renal cell carcinoma
A germline mutation in PBRM1 predisposes to renal cell carcinoma
About this item
Full title
Author / Creator
Benusiglio, Patrick R , Couvé, Sophie , Gilbert-Dussardier, Brigitte , Deveaux, Sophie , Le Jeune, Hélène , Da Costa, Mélanie , Fromont, Gaëlle , Memeteau, Françoise , Yacoub, Mokrane , Coupier, Isabelle , Leroux, Dominique , Méjean, Arnaud , Escudier, Bernard , Giraud, Sophie , Gimenez-Roqueplo, Anne-Paule , Blondel, Christophe , Frouin, Eric , Teh, Bin T , Ferlicot, Sophie , Bressac-de Paillerets, Brigitte , Richard, Stéphane and Gad, Sophie
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
Background Many cases of familial renal cell carcinoma (RCC) remain unexplained by mutations in the known predisposing genes or shared environmental factors. There are therefore additional, still unidentified genes involved in familial RCC. PBRM1 is a tumour suppressor gene and somatic mutations are found in 30–45% of sporadic clear cell (cc) RCC....
Alternative Titles
Full title
A germline mutation in PBRM1 predisposes to renal cell carcinoma
Authors, Artists and Contributors
Author / Creator
Couvé, Sophie
Gilbert-Dussardier, Brigitte
Deveaux, Sophie
Le Jeune, Hélène
Da Costa, Mélanie
Fromont, Gaëlle
Memeteau, Françoise
Yacoub, Mokrane
Coupier, Isabelle
Leroux, Dominique
Méjean, Arnaud
Escudier, Bernard
Giraud, Sophie
Gimenez-Roqueplo, Anne-Paule
Blondel, Christophe
Frouin, Eric
Teh, Bin T
Ferlicot, Sophie
Bressac-de Paillerets, Brigitte
Richard, Stéphane
Gad, Sophie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1808686525
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808686525
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2014-102912
