title: Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer.
abstract: Laron syndrome (LS) is a rare, genetic disorder inherited in an autosomal recessive manner. The disease is caused by mutations of the growth hormone (GH) gene, leading to GH/insulin-like growth factor type 1 (IGF1) signalling pathway defect. Patients with LS have characteristic biochemical features, such as a high serum level of GH and low IGF1 concentration. Laron syndrome was first described by the Israeli physician Zvi Laron in 1966. Globally, around 350 people are affected by this syndrome and there are two large groups living in separate geographic regions: Israel (69 individuals) and Ecuador (90 individuals). They are all characterized by typical appearance such as dwarfism, facial phenotype, obesity and hypogenitalism. Additionally, they suffer from hypoglycemia, hypercholesterolemia and sleep disorders, but surprisingly have a very low cancer risk. Therefore, studies on LS offer a unique opportunity to better understand carcinogenesis and develop new strategies of cancer treatment.
authors.affiliation: Department of Applied Radiobiology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Cracow Branch, Cracow, Poland z5janeck@cyfronet.pl.
authors.forename: Anna
authors.initials: A
authors.lastname: Janecka
authors.affiliation: Department of Surgical Oncology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Cracow Branch, Cracow, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Kołodziej-Rzepa
authors.affiliation: Department of Applied Radiobiology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Cracow Branch, Cracow, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Biesaga
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D046150:Laron Syndrome / Q000209:etiology* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011986:Receptors, Somatotropin / Q000235:genetics*
chemical_list: D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I
keywords: GH/IGF1 pathway; GHR mutations; Laron syndrome; cancer; review