Genetics and epigenetics of gastroenteropancreatic neuroendocrine neoplasms

A Mafficini, A Scarpa - Endocrine reviews, 2019 - academic.oup.com
Gastroenteropancreatic (GEP) neuroendocrine neoplasms (NENs) are heterogeneous
regarding site of origin, biological behavior, and malignant potential. There has been a rapid …

von Hippel–Lindau disease: A clinical and scientific review

ER Maher, HPH Neumann, S Richard - European Journal of Human …, 2011 - nature.com
The autosomal dominantly inherited disorder von Hippel–Lindau disease (VHL) is caused
by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations …

[HTML][HTML] von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

MLM Binderup, M Smerdel, L Borgwadt… - European Journal of …, 2022 - Elsevier
Abstract von Hippel Lindau disease (vHL) is caused by a hereditary predisposition to
multiple neoplasms, especially hemangioblastomas in the retina and CNS, renal cell …

Birth incidence and prevalence of tumor‐prone syndromes: estimates from a UK family genetic register service

DG Evans, E Howard, C Giblin, T Clancy… - American journal of …, 2010 - Wiley Online Library
Dominantly inherited tumor-prone syndromes are a significant health burden, but disease-
related morbidity can be reduced and life expectancy increased by a GR type approach …

Identification of the von Hippel-Lindau disease tumor suppressor gene

F Latif, K Tory, J Gnarra, M Yao, FM Duh, ML Orcutt… - Science, 1993 - science.org
A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL)
disease tumor suppressor gene. A restriction fragment encompassing the gene showed …

von Hippel-Lindau disease

RR Lonser, GM Glenn, MC Walther, EY Chew… - The Lancet, 2003 - thelancet.com
Summary von Hippel-Lindau disease is a heritable multisystem cancer syndrome that is
associated with a germline mutation of the VHL tumour suppressor gene on the short arm of …

Mutations of the VHL tumour suppressor gene in renal carcinoma

JR Gnarra, K Tory, Y Weng, L Schmidt, MH Wei, H Li… - Nature …, 1994 - nature.com
Multiple, bilateral renal carcinomas are a frequent occurrence in von Hippel–Lindau (VHL)
disease. To elucidate the aetiological role of the VHL gene in human kidney tumorigenesis …

[KİTAP][B] Pathology and genetics of tumours of the nervous system.

P Kleihues, WK Cavenee - 2000 - cabidigitallibrary.org
This book on the World Health Organization (WHO) classification of tumours of the nervous
system reflects the view of a working group that convened for an editorial and consensus …

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management

ER Maher - World journal of urology, 2018 - Springer
Purpose Genetic factors have been implicated in the pathogenesis of renal cell carcinoma
(RCC), with around 3% of cases having a family history. A greater knowledge of the genetics …

Pheochromocytoma: recommendations for clinical practice from the First International Symposium

K Pacak, G Eisenhofer, H Ahlman… - Nature clinical practice …, 2007 - nature.com
Abstract The First International Symposium on Pheochromocytoma, held in October 2005,
included discussions about developments concerning these rare catecholamine-producing …