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Germline

Authors :
Fanélie, Jouenne
Isaure, Chauvot de Beauchene
Emeline, Bollaert
Marie-Françoise, Avril
Olivier, Caron
Olivier, Ingster
Axel, Lecesne
Patrick, Benusiglio
Philippe, Terrier
Vincent, Caumette
Daniel, Pissaloux
Arnaud, de la Fouchardière
Odile, Cabaret
Birama, N'Diaye
Amélie, Velghe
Gaelle, Bougeard
Graham J, Mann
Serge, Koscielny
Jennifer H, Barrett
Mark, Harland
Julia, Newton-Bishop
Nelleke, Gruis
Remco, Van Doorn
Marion, Gauthier-Villars
Gaelle, Pierron
Dominique, Stoppa-Lyonnet
Isabelle, Coupier
Rosine, Guimbaud
Capucine, Delnatte
Jean-Yves, Scoazec
Alexander M, Eggermont
Jean, Feunteun
Luba, Tchertanov
Jean-Baptiste, Demoulin
Thierry, Frebourg
Brigitte, Bressac-de Paillerets
Source :
Journal of medical genetics. 54(9)
Publication Year :
2016

Abstract

Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation inGermline mutations in

Details

ISSN :
14686244
Volume :
54
Issue :
9
Database :
OpenAIRE
Journal :
Journal of medical genetics
Accession number :
edsair.pmid..........067318fbc9bc6e7b93bdd22848c8a71a