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000180526 1001_ $$00000-0003-0050-5407$$aGuerrini-Rousseau, Léa$$b0
000180526 245__ $$aCancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
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000180526 500__ $$a2022 Jun 29;59(11):1123-1132
000180526 520__ $$aLittle 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(PVs) known as a cancer predisposition syndrome.To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients.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.
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000180526 650_7 $$2Other$$acentral nervous system diseases
000180526 650_7 $$2Other$$acongenital, hereditary, and neonatal diseases and abnormalities
000180526 650_7 $$2Other$$agenetic counseling
000180526 650_7 $$2Other$$agenetic predisposition to disease
000180526 650_7 $$2Other$$agerm-line mutation
000180526 7001_ $$aMasliah-Planchon, Julien$$b1
000180526 7001_ $$aWaszak, Sebastian M$$b2
000180526 7001_ $$aAlhopuro, Pia$$b3
000180526 7001_ $$aBenusiglio, Patrick R$$b4
000180526 7001_ $$aBourdeaut, Franck$$b5
000180526 7001_ $$aBrecht, Ines B$$b6
000180526 7001_ $$aDel Baldo, Giada$$b7
000180526 7001_ $$00000-0003-1381-7434$$aDhanda, Sandeep Kumar$$b8
000180526 7001_ $$aGarrè, Maria Luisa$$b9
000180526 7001_ $$aGidding, Corrie E M$$b10
000180526 7001_ $$0P:(DE-He78)5e3d4de4b59cd068969e101847794267$$aHirsch, Steffen$$b11$$udkfz
000180526 7001_ $$aHoarau, Pauline$$b12
000180526 7001_ $$aJorgensen, Mette$$b13
000180526 7001_ $$aKratz, Christian$$b14
000180526 7001_ $$aLafay-Cousin, Lucie$$b15
000180526 7001_ $$aMastronuzzi, Angela$$b16
000180526 7001_ $$aPastorino, Lorenza$$b17
000180526 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan M$$b18$$udkfz
000180526 7001_ $$aSchroeder, Christopher$$b19
000180526 7001_ $$00000-0002-3184-0817$$aSmith, Miriam Jane$$b20
000180526 7001_ $$aVahteristo, Pia$$b21
000180526 7001_ $$00000-0001-5202-0212$$aVibert, Roseline$$b22
000180526 7001_ $$aVilain, Catheline$$b23
000180526 7001_ $$00000-0002-2271-8959$$aWaespe, Nicolas$$b24
000180526 7001_ $$aWinship, Ingrid M$$b25
000180526 7001_ $$aEvans, D Gareth$$b26
000180526 7001_ $$aBrugieres, Laurence$$b27
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