Please use this identifier to cite or link to this item: https://doi.org/10.1186/s40880-016-0141-z
Title: Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome
Authors: Wong, M
Chu, Y.-H
Tan, H.L
Bessho, H
Ngeow, J 
Tang, T 
Tan, M.-H 
Keywords: VHL protein, human
von Hippel Lindau protein
Far East
female
genetic predisposition
genetics
genotype
human
male
mutation
pathology
pedigree
phenotype
risk factor
von Hippel Lindau disease
Far East
Female
Genetic Predisposition to Disease
Genotype
Humans
Male
Mutation
Pedigree
Phenotype
Risk Factors
von Hippel-Lindau Disease
Von Hippel-Lindau Tumor Suppressor Protein
Issue Date: 2016
Citation: Wong, M, Chu, Y.-H, Tan, H.L, Bessho, H, Ngeow, J, Tang, T, Tan, M.-H (2016). Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. Chinese journal of cancer 35 (1) : 79. ScholarBank@NUS Repository. https://doi.org/10.1186/s40880-016-0141-z
Rights: Attribution 4.0 International
Abstract: BACKGROUND: Von Hippel-Lindau (VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome.METHODS: To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non-English language articles identified through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction.RESULTS: Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common (40.9%, 63/154), followed by large/complete deletions (32.5%, 50/154) and nonsense mutations (11.7%, 18/154). Compared with a previously reported study of both East Asian and non-East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients (40.9% vs. 52.0%; P�=�0.012 and 8.4% vs. 13.0%; P�<�0.001, respectively). Second, large/complete deletions were more common in our population of East Asian patients (32.5% vs. 10.5%; P�<�0.001). Third, phenotypically, we observed that, in our population of East Asian patients with VHL syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher.CONCLUSIONS: Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia.
Source Title: Chinese journal of cancer
URI: https://scholarbank.nus.edu.sg/handle/10635/183321
ISSN: 1944446X
DOI: 10.1186/s40880-016-0141-z
Rights: Attribution 4.0 International
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