BAP1 gene - tumor predisposition syndrome
BAP1 hereditary cancer predisposition syndrome is a recently described condition associated with an increased risk for multiple cancers, including uveal melanoma (melanoma of the eye), malignant mesothelioma, cutaneous melanoma, and renal cell carcinoma. The BAP1 gene plays an important role in the life cycle of cells by regulating a protein involved in cell growth, division, and death. By doing so, BAP1 acts as a tumor suppressor by helping prevent cells from growing too rapidly. When there is a mutation in the BAP1 gene, the risk for developing cancer increases because it cannot properly complete this task. Cancers commonly associated with a mutation in BAP1 include kidney, skin, and eye.
BAP1 is inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.