RAS proteins and their regulators in human disease

DK Simanshu, DV Nissley, F McCormick - Cell, 2017 - cell.com
RAS proteins are binary switches, cycling between ON and OFF states during signal
transduction. These switches are normally tightly controlled, but in RAS-related diseases …

Pediatric low-grade glioma in the era of molecular diagnostics

S Ryall, U Tabori, C Hawkins - Acta neuropathologica communications, 2020 - Springer
Low grade gliomas are the most frequent brain tumors in children and encompass a
spectrum of histologic entities which are currently assigned World Health Organisation …

[HTML][HTML] Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

E Legius, L Messiaen, P Wolkenstein, P Pancza… - Genetics in …, 2021 - nature.com
Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

Integrated molecular and clinical analysis of 1,000 pediatric low-grade gliomas

S Ryall, M Zapotocky, K Fukuoka, L Nobre, AG Stucklin… - Cancer cell, 2020 - cell.com
Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations in the RAS-
mitogen-activated protein kinase (RAS/MAPK) pathway yet show unexplained variability in …

Neurofibromatosis type 1

DH Gutmann, RE Ferner, RH Listernick… - Nature Reviews …, 2017 - nature.com
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017

MB Daly, R Pilarski, M Berry, SS Buys… - Journal of the National …, 2017 - jnccn.org
The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk
Assessment: Breast and Ovarian provide recommendations for genetic testing and …

The diagnosis and management of neurofibromatosis type 1

KI Ly, JO Blakeley - Medical Clinics, 2019 - medical.theclinics.com
Neurofibromatosis (NF) type 1 (NF1), NF type 2 (NF2), and schwannomatosis constitute a
group of autosomal dominant tumor suppressor syndromes that predispose to benign and …

UK guidelines for the management of soft tissue sarcomas

A Dangoor, B Seddon, C Gerrand, R Grimer… - Clinical sarcoma …, 2016 - Springer
Soft tissue sarcomas (STS) are rare tumours arising in mesenchymal tissues, and can occur
almost anywhere in the body. Their rarity, and the heterogeneity of subtype and location …

Health supervision for children with neurofibromatosis type 1

DT Miller, D Freedenberg, E Schorry, NJ Ullrich… - …, 2019 - publications.aap.org
Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …

ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

C Carton, DG Evans, I Blanco, RE Friedrich… - …, 2023 - thelancet.com
Summary Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder,
predisposing development of benign and malignant tumours. Given the oncogenic potential …