title: Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.
abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with germline mutations in the VHL gene. VHL disease, as well as several other cancer syndromes, has been associated with an increased risk of pheochromocytomas, which are catecholamine-secreting tumors of the adrenal gland. VHL disease genotype-phenotype correlations have been well established based on the type of mutations in the VHL gene. However, although many groups have reported VHL germline mutations in different countries, no previous report has described VHL gene mutations in VHL disease and/or pheochromocytoma patients in Korea. In this study, we used direct sequencing to investigate VHL germline mutations in Korean patients with VHL disease or pheochromocytomas (11 VHL patients and 3 additional members from 7 families, 2 patients from 1 family with familial pheochromocytoma, and 2 cases of isolated pheochromocytoma). We found a total of 7 VHL germline mutations (6 missense and 1 frameshift), 3 of which were novel (323_324delGC, 355T>C and 361G>A). No VHL germline mutation was found in the 2 patients with isolated pheochromocytomas and paragangliomas. This study provides informative data for VHL germline mutations and VHL-related phenotypes in Korea.
authors.affiliation: Korean Hereditary Tumor Registry, Cancer Research Institute, Seoul National University, Seoul.
authors.forename: Hio Chung
authors.initials: HC
authors.lastname: Kang
authors.forename: Il-Jin
authors.initials: IJ
authors.lastname: Kim
authors.forename: Jae-Hyun
authors.initials: JH
authors.lastname: Park
authors.forename: Yong
authors.initials: Y
authors.lastname: Shin
authors.forename: Sang-Geun
authors.initials: SG
authors.lastname: Jang
authors.forename: Sun-A
authors.initials: SA
authors.lastname: Ahn
authors.forename: Hye-Won
authors.initials: HW
authors.lastname: Park
authors.forename: Sun-Kyung
authors.initials: SK
authors.lastname: Lim
authors.forename: Seung Keun
authors.initials: SK
authors.lastname: Oh
authors.forename: Dae Jung
authors.initials: DJ
authors.lastname: Kim
authors.forename: Kwan Woo
authors.initials: KW
authors.lastname: Lee
authors.forename: Young-Sik
authors.initials: YS
authors.lastname: Choi
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Park
authors.forename: Min Ro
authors.initials: MR
authors.lastname: Lee
authors.forename: Duck-Woo
authors.initials: DW
authors.lastname: Kim
authors.forename: Jae-Gahb
authors.initials: JG
authors.lastname: Park
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000378:metabolism; D000328:Adult; D002395:Catecholamines / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009154:Mutation; D020125:Mutation, Missense; D010235:Paraganglioma / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D010673:Pheochromocytoma / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D002395:Catecholamines; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human