Germline inactivation of tumor suppressor BAP1 is associated with white spotting

J Clin Invest. 2026 Jan 2;136(1):e195809. doi: 10.1172/JCI195809.

Abstract

Inherited BAP1 mutations cause melanoma and other cancers and can also lead to white hair patches or skin spots due to pigment cell loss.

Keywords: Dermatology; Genetic diseases; Genetics; Melanoma; Skin.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Germ-Line Mutation*
  • Humans
  • Male
  • Melanoma / genetics
  • Melanoma / pathology
  • Skin Neoplasms / genetics
  • Tumor Suppressor Proteins* / genetics
  • Ubiquitin Thiolesterase* / genetics

Substances

  • Ubiquitin Thiolesterase
  • BAP1 protein, human
  • Tumor Suppressor Proteins