A germline mutation in PBRM1 predisposes to renal cell carcinoma

Journal of Medical Genetics

Volumn 52, Issue 6, 2015, Pages 426-430

  Benusiglio, Patrick R ^a,b   Couvé, Sophie ^c,d   Gilbert Dussardier, Brigitte ^a,e   Deveaux, Sophie ^a   Le Jeune, Hélène ^c,d   Da Costa, Mélanie ^c,d   Fromont, Gaëlle ^f   Memeteau, Françoise ^g   Yacoub, Mokrane ^h   Coupier, Isabelle ^a,i,j   Leroux, Dominique ^a,k   Méjean, Arnaud ^a,l,m   Escudier, Bernard ⁿ   Giraud, Sophie ^a,o   Gimenez Roqueplo, Anne Paule ^l   Blondel, Christophe ^p   Frouin, Eric ^e   Teh, Bin T ^q,r,s   Ferlicot, Sophie ^a   Paillerets, Brigitte Bressac De ^p   Richard, Stéphane ^a,c,d   Gad, Sophie ^c,d   more..

^a BICÊTRE HOSPITAL   (France)

^b INSTITUT GUSTAVE ROUSSY   (France)

^c PSL RESEARCH UNIVERSITY   (France)

^d UNIVERSITÉ PARIS SACLAY   (France)

^e POITIERS UNIVERSITY HOSPITAL   (France)

^f CHRU de Tours   (France)

^g Centre Hospitalier de Niort   (France)

^h HÔPITAL PELLEGRIN   (France)

ⁱ CENTRE VAL D AURELLE   (France)

^j MONTPELLIER UNIVERSITY HOSPITAL   (France)

^k GRENOBLE UNIVERSITY HOSPITAL   (France)

^l HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^m UNIVERSITÉ PARIS DESCARTES   (France)

ⁿ Unite Inst Natl de la S et de la Rech Med U753 Immunol des Tumeurs Humaines   (France)

^o EDOUARD HERRIOT HOSPITAL   (France)

^p Service de Génétique Gustave Roussy Cancer Campus   (France)

^q DIVISION OF MEDICAL ONCOLOGY   (Singapore)

^r DUKE NUS MEDICAL SCHOOL   (Singapore)

^s NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; FRAMESHIFT MUTATION; GERMLINE MUTATION; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; KIDNEY CARCINOMA; MALE; PBRM1 GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; CARCINOMA, RENAL CELL; DNA MUTATIONAL ANALYSIS; EXON; FEMALE; GENETIC PREDISPOSITION; GENETICS; IMMUNOHISTOCHEMISTRY; KIDNEY NEOPLASMS; METABOLISM; PEDIGREE;

NUCLEAR PROTEIN; PBRM1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

CARCINOMA, RENAL CELL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; KIDNEY NEOPLASMS; MALE; NUCLEAR PROTEINS; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 84930627728     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102912     Document Type: Article

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