Characterization of von Hippel Lindau gene variants in an African American cohort.

doi:10.1016/j.xhgg.2026.100617

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Article

Characterization of von Hippel Lindau gene variants in an African American cohort.

HGG advances - 9 Jul 2026

Shao Yusra F, Duque Diana, Alloghbi Abdul-Rahman, Al Share Bayan, Kim Seongho, Kokenakes Courtney, Heath Elisabeth

Abstract excerpt

Autosomal-dominant (AD) pathogenic/likely pathogenic (P/LP) variants in von Hippel-Lindau (VHL) gene cause VHL disease. We characterize VHL variants and disease phenotypes in Black/African American (AA) patients, a demographic that has not been thoroughly studied. Black/AA patients undergoing germline genetic testing at a CLIA-certified commercial laboratory from November 2014 to March 2022 and carrying a P/LP AD...

Topics

Humans
Black or African American
Von Hippel-Lindau Tumor Suppressor Protein
von Hippel-Lindau Disease
Female
Male
Middle Aged
Adult
Genetic Variation
Genetic Testing
Cohort Studies
Phenotype
Genetic Predisposition to Disease
Germ-Line Mutation

Source

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Identifiers

PMID: 42026869
DOI: 10.1016/j.xhgg.2026.100617
PMCID: PMC13207352

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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