Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.

ABSTRACT:

Background

Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome.

Methods

To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients.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.

Results

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. M

SUBMITTER: Guerrini-Rousseau L 

PROVIDER: S-EPMC9613872 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature