Associated Papers
Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.
van Dal M et al.
Journal of Cutaneous Pathology, 2024
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Siegert S et al.
Pediatric Neurology, 2024
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Untranslated regions (UTRs) are a potential novel source of neoantigens for personalised immunotherapy.
Sng CCT et al.
Frontiers in Immunology, 2024
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.
Álvarez-Salafranca M et al.
The Australasian Journal of Dermatology, 2023
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V et al.
Journal of Medical Genetics, 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.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2022
Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.
Chen Y et al.
Frontiers in Oncology, 2022
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution.
Wang Y et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021
Copy number signatures and mutational processes in ovarian carcinoma.
Macintyre G et al.
Nature Genetics, 2018
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L et al.
Neuro-oncology, 2018
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
Brugières L et al.
Journal of Medical Genetics, 2010