التفاصيل البيبلوغرافية
| العنوان: |
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation : a collaborative study of the SIOPE Host Genome Working Group |
| المؤلفون: |
Guerrini-Rousseau, Lea, Masliah-Planchon, Julien, Waszak, Sebastian M., Alhopuro, Pia, Benusiglio, Patrick R., Bourdeaut, Franck, Brecht, Ines B., Del Baldo, Giada, Dhanda, Sandeep Kumar, Garre, Maria Luisa, Gidding, Corrie E. M., Hirsch, Steffen, Hoarau, Pauline, Jorgensen, Mette, Kratz, Christian, Lafay-Cousin, Lucie, Mastronuzzi, Angela, Pastorino, Lorenza, Pfister, Stefan M., Schroeder, Christopher, Smith, Miriam Jane, Vahteristo, Pia, Vibert, Roseline, Vilain, Catheline, Waespe, Nicolas, Winship, Ingrid M., Evans, D. Gareth, Brugieres, Laurence |
| المساهمون: |
HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, ATG - Applied Tumor Genomics, Biosciences |
| بيانات النشر: |
BMJ Publishing Group Ltd |
| سنة النشر: |
2022 |
| المجموعة: |
Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto |
| مصطلحات موضوعية: |
genetic predisposition to disease, germ-line mutation, central nervous system diseases, genetic counseling, congenital, hereditary, and neonatal diseases and abnormalities, CHILDHOOD MEDULLOBLASTOMA, GORLIN SYNDROME, HUMAN HOMOLOG, MUTATIONS, PREDISPOSITION, CHILDREN, FAMILY, GENE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology |
| الوصف: |
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 Methods To study tumour risks, we have analysed data of a large cohort of 45 unpublished patients with a germline SUFU PV completed with 127 previously published patients.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. 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. Conclusion 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. ; Peer reviewed |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
LB and LG-R have been supported by la Fondation Gustave Roussy campaign: Guerir Le Cancer de l'Enfant au 21eme siecle. DGE and MJS are supported by the National Institute for Health Research (NIHR) BRC Manchester (Grant Reference Number 1215-200074). CPK and SMP have been supported by the Deutsche Kinderkrebsstiftung (DKS2019.13).; 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 , Garre , M L , Gidding , C E M , Hirsch , S , Hoarau , P , Jorgensen , M , Kratz , C , Lafay-Cousin , L , Mastronuzzi , A , Pastorino , L , Pfister , S M , Schroeder , C , Smith , M J , Vahteristo , P , Vibert , R , Vilain , C , Waespe , N , Winship , I M , Evans , D G & Brugieres , L 2022 , ' Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation : a collaborative study of the SIOPE Host Genome Working Group ' , Journal of Medical Genetics , vol. 59 , no. 11 , pp. 1123-1132 . https://doi.org/10.1136/jmedgenet-2021-108385Test; ee18a429-21bd-4a7b-883b-21286a2470de; http://hdl.handle.net/10138/350572Test; 000819488800001 |
| الإتاحة: |
http://hdl.handle.net/10138/350572Test |
| حقوق: |
cc_by ; openAccess ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.83186573 |
| قاعدة البيانات: |
BASE |
