Article
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
European journal of medical genetics - 1 Dec 2021
Rana Huma Q, Koeller Diane R, Schwartz Alison, Manning Danielle K, Schneider Katherine A, Krajewski Katherine M, Choueiri Toni K, Lindeman Neal I, Garber Judy E, Ghazani Arezou A
Abstract excerpt
Von Hippel-Lindau (VHL) syndrome is a hereditary tumor syndrome associated with germline loss-of-function pathogenic variants (PVs) in the VHL gene. VHL is classically associated with a high penetrance for many different tumor types. The same tumors may be sporadic in the setting of somatic VHL PVs. With more large-scale genome sequencing, variants with low penetrance or variable expressivity are identified. This...
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