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 …

[HTML][HTML] Molecular neurobiology of mTOR

K Switon, K Kotulska, A Janusz-Kaminska… - Neuroscience, 2017 - Elsevier
Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that
controls several important aspects of mammalian cell function. mTOR activity is modulated …

The adaptive immune system is a major driver of selection for tumor suppressor gene inactivation

TD Martin, RS Patel, DR Cook, MY Choi, A Patil… - Science, 2021 - science.org
During tumorigenesis, tumors must evolve to evade the immune system and do so by
disrupting the genes involved in antigen processing and presentation or up-regulating …

Neurofibromatosis type 1: a multidisciplinary approach to care

AC Hirbe, DH Gutmann - The Lancet Neurology, 2014 - thelancet.com
Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high
predisposition to develop both benign and malignant tumours. Although many …

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

N Ratner, SJ Miller - Nature Reviews Cancer, 2015 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

Malignant peripheral nerve sheath tumor: models, biology, and translation

BN Somatilaka, A Sadek, RM McKay, LQ Le - Oncogene, 2022 - nature.com
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive, invasive cancer that
comprise around 10% of all soft tissue sarcomas and develop in about 8–13% of patients …

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

T De Raedt, E Beert, E Pasmant, A Luscan, H Brems… - Nature, 2014 - nature.com
The polycomb repressive complex 2 (PRC2) exerts oncogenic effects in many tumour types.
However, loss-of-function mutations in PRC2 components occur in a subset of …

Malignant peripheral nerve sheath tumors

M Farid, EG Demicco, R Garcia, L Ahn… - The …, 2014 - academic.oup.com
Learning Objectives Explain the characteristics and treatment of malignant peripheral nerve
sheath tumors, both in relation to neurofibromatosis type I and otherwise. Cite the unique …

Chromosomal instability and tumors promoted by DNA hypomethylation

A Eden, F Gaudet, A Waghmare, R Jaenisch - Science, 2003 - science.org
Human tumors often display changes in DNA methylation, including both genome-wide
hypomethylation and site-specific hypermethylation (1, 2). In mice, DNA hypomethylation is …

Maximizing mouse cancer models

KK Frese, DA Tuveson - Nature Reviews Cancer, 2007 - nature.com
Animal models of cancer provide an alternative means to determine the causes of and
treatments for malignancy, thus representing a resource of immense potential for cancer …