TY  - JOUR
AU  - Guerrini-Rousseau, Léa
AU  - Masliah-Planchon, Julien
AU  - Waszak, Sebastian M
AU  - Alhopuro, Pia
AU  - Benusiglio, Patrick R
AU  - Bourdeaut, Franck
AU  - Brecht, Ines B
AU  - Del Baldo, Giada
AU  - Dhanda, Sandeep Kumar
AU  - Garrè, Maria Luisa
AU  - Gidding, Corrie E M
AU  - Hirsch, Steffen
AU  - Hoarau, Pauline
AU  - Jorgensen, Mette
AU  - Kratz, Christian
AU  - Lafay-Cousin, Lucie
AU  - Mastronuzzi, Angela
AU  - Pastorino, Lorenza
AU  - Pfister, Stefan M
AU  - Schroeder, Christopher
AU  - Smith, Miriam Jane
AU  - Vahteristo, Pia
AU  - Vibert, Roseline
AU  - Vilain, Catheline
AU  - Waespe, Nicolas
AU  - Winship, Ingrid M
AU  - Evans, D Gareth
AU  - Brugieres, Laurence
TI  - Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
JO  - Journal of medical genetics
VL  - 59
IS  - 11
SN  - 0022-2593
CY  - London
PB  - BMJ Publishing Group
M1  - DKFZ-2022-01392
SP  - 1123-1132
PY  - 2022
N1  - 2022 Jun 29;59(11):1123-1132
AB  - 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(PVs) known as a cancer predisposition syndrome.To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients.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
KW  - central nervous system diseases (Other)
KW  - congenital, hereditary, and neonatal diseases and abnormalities (Other)
KW  - genetic counseling (Other)
KW  - genetic predisposition to disease (Other)
KW  - germ-line mutation (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:35768194
DO  - DOI:10.1136/jmedgenet-2021-108385
UR  - https://inrepo02.dkfz.de/record/180526
ER  -