Journal Article

DKFZ-2022-01392

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.

Guerrini-Rousseau, L. ; Masliah-Planchon, J. ; Waszak, S. M. ; Alhopuro, P. ; Benusiglio, P. R. ; Bourdeaut, F. ; Brecht, I. B. ; Del Baldo, G. ; Dhanda, S. K. ; Garrè, M. L. ; Gidding, C. E. M. ; Hirsch, S.DKFZ* ; Hoarau, P. ; Jorgensen, M. ; Kratz, C. ; Lafay-Cousin, L. ; Mastronuzzi, A. ; Pastorino, L. ; Pfister, S. M.DKFZ* ; Schroeder, C. ; Smith, M. J. ; Vahteristo, P. ; Vibert, R. ; Vilain, C. ; Waespe, N. ; Winship, I. M. ; Evans, D. G. ; Brugieres, L.

2022
BMJ Publishing Group London

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Please use a persistent id in citations: doi:10.1136/jmedgenet-2021-108385

Abstract: 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(PVs) known as a cancer predisposition syndrome.To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients.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%) SUFU PV carriers developed at least one tumour: medulloblastoma (MB) (86 patients), basal cell carcinoma (BCC) (25 patients), meningioma (20 patients) and gonadal tumours (11 patients). Thirty-three of them (28%) had multiple tumours. Median age at diagnosis of MB, gonadal tumour, first BCC and first meningioma were 1.5, 14, 40 and 44 years, respectively. Follow-up data were available for 160 patients (137 remained alive and 23 died). The cumulative incidence of tumours in relatives was 14.4% (95% CI 6.8 to 21.4), 18.2% (95% CI 9.7 to 25.9) and 44.1% (95% CI 29.7 to 55.5) at the age of 5, 20 and 50 years, respectively. The cumulative risk of an MB, gonadal tumour, BCC and meningioma at age 50 years was: 13.3% (95% CI 6 to 20.1), 4.6% (95% CI 0 to 9.7), 28.5% (95% CI 13.4 to 40.9) and 5.2% (95% CI 0 to 12), respectively. Sixty-four different PVs were reported across the entire SUFU gene and inherited in 73% of cases in which inheritance could be evaluated.Germline SUFU PV carriers have a life-long increased risk of tumours with a spectrum dominated by MB before the age of 5, gonadal tumours during adolescence and BCC and meningioma in adulthood, justifying fine-tuned surveillance programmes.

Keyword(s): central nervous system diseases ; congenital, hereditary, and neonatal diseases and abnormalities ; genetic counseling ; genetic predisposition to disease ; germ-line mutation

Note: 2022 Jun 29;59(11):1123-1132

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2022

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Essential Science Indicators ; IF >= 5 ; JCR ; National-Konsortium ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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