BAP1
Associated conditions:
- Renal/urinary tract cancer
- Melanoma
BAP1 makes a tumour-suppressor enzyme that helps switch off runaway cell growth and repair damaged DNA. Genetic changes in this gene are associated with an autosomal dominant condition called BAP1 tumour predisposition syndrome, which raises the lifetime risk of uveal (eye) melanoma, mesothelioma, kidney cancer and skin tumours. Knowing your genetic status enables regular eye, skin and imaging surveillance to catch tumours early.
Conditions linked to BAP1
Renal/urinary tract cancer
Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.
Melanoma
Melanoma is a serious skin cancer that begins in pigment-producing cells and can also arise in the eye. Inherited variants raise lifetime risk, so carriers benefit from sun protection, regular skin (and sometimes eye) checks and prompt review of changing moles.
