Article
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Journal of medical genetics - 1 Sept 2017
Jouenne Fanélie, Chauvot de Beauchene Isaure, Bollaert Emeline, Avril Marie-Françoise, Caron Olivier, Ingster Olivier, Lecesne Axel, Benusiglio Patrick, Terrier Philippe, Caumette Vincent, Pissaloux Daniel, de la Fouchardière Arnaud, Cabaret Odile, N'Diaye Birama, Velghe Amélie, Bougeard Gaelle, Mann Graham J, Koscielny Serge, Barrett Jennifer H, Harland Mark, Newton-Bishop Julia, Gruis Nelleke, Van Doorn Remco, Gauthier-Villars Marion, Pierron Gaelle, Stoppa-Lyonnet Dominique, Coupier Isabelle, Guimbaud Rosine, Delnatte Capucine, Scoazec Jean-Yves, Eggermont Alexander M, Feunteun Jean, Tchertanov Luba, Demoulin Jean-Baptiste, Frebourg Thierry, Bressac-de Paillerets Brigitte
Abstract excerpt
BACKGROUND: Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology. METHODS AND RESULTS: 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 in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.