%0 Journal Article
%A Guerrini-Rousseau, Léa
%A Masliah-Planchon, Julien
%A Waszak, Sebastian M
%A Alhopuro, Pia
%A Benusiglio, Patrick R
%A Bourdeaut, Franck
%A Brecht, Ines B
%A Del Baldo, Giada
%A Dhanda, Sandeep Kumar
%A Garrè, Maria Luisa
%A Gidding, Corrie E M
%A Hirsch, Steffen
%A Hoarau, Pauline
%A Jorgensen, Mette
%A Kratz, Christian
%A Lafay-Cousin, Lucie
%A Mastronuzzi, Angela
%A Pastorino, Lorenza
%A Pfister, Stefan M
%A Schroeder, Christopher
%A Smith, Miriam Jane
%A Vahteristo, Pia
%A Vibert, Roseline
%A Vilain, Catheline
%A Waespe, Nicolas
%A Winship, Ingrid M
%A Evans, D Gareth
%A Brugieres, Laurence
%T Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
%J Journal of medical genetics
%V 59
%N 11
%@ 0022-2593
%C London
%I BMJ Publishing Group
%M DKFZ-2022-01392
%P 1123-1132
%D 2022
%Z 2022 Jun 29;59(11):1123-1132
%X Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome.To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients. To reduce the ascertainment bias due to index patient selection, the risk of tumours was evaluated in relatives with SUFU PV (89 patients) using the Nelson-Aalen estimator.Overall, 117/172 (68
%K central nervous system diseases (Other)
%K congenital, hereditary, and neonatal diseases and abnormalities (Other)
%K genetic counseling (Other)
%K genetic predisposition to disease (Other)
%K germ-line mutation (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:35768194
%R 10.1136/jmedgenet-2021-108385
%U https://inrepo02.dkfz.de/record/180526