BAP1
Pronunciation: B-A-P-one
Also written as: BAP1 — BRCA1-associated protein 1
BRCA1-associated protein 1, a tumor suppressor gene whose mutations are associated with aggressive uveal melanoma and poor prognosis.
Full Definition
BAP1 (BRCA1-associated protein 1) is a tumor suppressor gene located on chromosome 3p21 that plays a crucial role in uveal melanoma prognosis and treatment planning. Loss of BAP1 expression, detected through immunohistochemistry, is associated with chromosome 3 monosomy and significantly increased risk of metastasis in choroidal melanoma patients. Approximately 80-85% of metastasizing uveal melanomas show BAP1 loss, making it one of the strongest prognostic biomarkers in ocular oncology. Germline BAP1 mutations are also associated with familial cancer syndromes, including increased risk of mesothelioma, renal cell carcinoma, and cutaneous melanoma.
Usage
Usage note: Always capitalize. Results reported as 'BAP1-positive' or 'BAP1-negative' with hyphen when used as compound modifiers.
In Context
- "BAP1 immunostaining was negative, indicating high metastatic risk." — Pathology report
- "Patients with BAP1-positive tumors showed significantly better overall survival." — Clinical research publication