Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.

ABSTRACT: Von Hippel-Lindau disease (vHL) is a rare hereditary tumour predisposition with multiorgan involvement that is not always easily recognized. The disease is reported to be almost fully penetrant at age 60 years. Previous estimates of vHL prevalence and incidence are all regional and vary widely. Most are >20 years old and prone to selection bias because of inclusion of only clinically affected vHL patients who were diagnosed before genetic testing was available. In an unselected cohort of all known Danish carriers of a disease-causing VHL variant, we assessed vHL penetrance on a national basis. We further used national health registers to identify individuals who fulfilled the clinical diagnostic vHL criteria based on their registered diagnostic codes, but had not been diagnosed with vHL. W

SUBMITTER: Binderup ML 

PROVIDER: S-EPMC5315510 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature