Germline <i>CDKN2A</i>/P16INK4A mutations contribute to genetic determinism of sarcoma

Jouenne, Fanélie; Chauvot de Beauchêne, Isaure; Bollaert, Emeline; Avril, Marie-Françoise; Caron, Olivier; Ingster, Olivier; Lecesne, A.; R. Benusiglio, Patrick; Terrier, Philippe; Caumette, Vincent; Pissaloux, Daniel; de la Fouchardière, Arnaud; Cabaret, Odile; Ndiaye, Birama; I. Velghe, Amélie; Bougeard, Gaëlle; J. Mann, Graham; Koscielny, Serge; H. Barrett, Jennifer; Harland, Mark; Newton‐Bishop, Julia; A. Gruis, Nelleke; van Doorn, Remco; Gauthier‐Villars, Marion; Pierron, Gaëlle; Stoppa‐Lyonnet, Dominique; Coupier, Isabelle; Guimbaud, Rosine; Delnatte, Capucine; Scoazec, Jean‐Yves; Eggermont, Alexander; Feunteun, Jean; Tchertanov, Luba; Demoulin, Jean‐Baptiste; Frébourg, Thierry; Bressac–de Paillerets, Brigitte

doi:10.1136/jmedgenet-2016-104402

Public

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

Published in Journal of Medical Genetics • Jun 7, 2017

Authors:

Fanélie Jouenne

Isaure Chauvot de Beauchêne

Emeline Bollaert

Abstract

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 s...

Subject

CDKN2A

Germline mutation

Cancer research

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!