Von Hippel–Lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood

SP Rednam, A Erez, H Druker, KA Janeway… - Clinical Cancer …, 2017 - aacrjournals.org
Abstract Von Hippel–Lindau disease (vHL) is a hereditary tumor predisposition syndrome
that places affected individuals at risk for multiple tumors, which are predominantly benign …

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 …

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 …

Hereditary cancer syndromes: a comprehensive review with a visual tool

M Garutti, L Foffano, R Mazzeo, A Michelotti, L Da Ros… - Genes, 2023 - mdpi.com
Hereditary cancer syndromes account for nearly 10% of cancers even though they are often
underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in …

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 …

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

S Köhler, MH Schulz, P Krawitz, S Bauer… - The American Journal of …, 2009 - cell.com
The differential diagnostic process attempts to identify candidate diseases that best explain
a set of clinical features. This process can be complicated by the fact that the features can …

Hypoxia inducible factor (HIF) in the tumor microenvironment: friend or foe?

Y Huang, D Lin, CM Taniguchi - Science China Life Sciences, 2017 - Springer
Hypoxia acts as an important regulator of physiological and pathological processes.
Hypoxia inducible factors (HIFs) are the central players involved in the cellular adaptation to …

Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies

RT Jensen, MJ Berna, DB Bingham, JA Norton - Cancer, 2008 - Wiley Online Library
Pancreatic endocrine tumors (PETs) have long fascinated clini-cians, because some can
release biologically active hormones that cause distinct syndromes and provide important …

Highly penetrant hereditary cancer syndromes

R Nagy, K Sweet, C Eng - Oncogene, 2004 - nature.com
The past two decades have brought many important advances in our understanding of the
hereditary susceptibility to cancer. Approximately 5–10% of all cancers are inherited, the …

Von Hippel-Lindau disease: current challenges and future prospects

S Gläsker, E Vergauwen, CA Koch… - OncoTargets and …, 2020 - Taylor & Francis
Understanding of molecular mechanisms of tumor growth has an increasing impact on the
development of diagnostics and targeted therapy of human neoplasia. In this review, we …