Germline inactivation of tumor suppressor BAP1 is associated with white spotting.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 41480773.
- Also identified by DOI 10.1172/JCI195809 and PMC identifier 12721880.
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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.
Medical subject headings
- Ubiquitin Thiolesterase
- Tumor Suppressor Proteins
- Germ-Line Mutation