BAP1-related tumor predisposition syndrome

BAP1-related tumor predisposition syndrome is an inherited condition that increases the risk of developing several types of cancer. It is linked to harmful changes in the BAP1 gene, which normally helps control cell growth. People with this syndrome can be at risk for cancers such as uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer, and meningioma. In addition to these internal cancers, there are common skin findings associated with this syndrome. These include malignant melanoma, basal cell carcinoma, and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT). The skin lesions typically appear as small, well-circumscribed papules that vary in color from skin-coloured to reddish-brown. They often have a dome-shaped or pedunculated appearance and average about 5 mm in size.

People with this syndrome may experience skin lesions such as malignant melanoma, basal cell carcinoma, and benign papules known as MBAIT. They are also at an increased risk for a variety of cancers which may present with different symptoms depending on the type and location of the cancer. Information about specific early symptoms related to cancer development is limited.

The condition is caused by germline mutations in the BAP1 tumor suppressor gene. These mutations are inherited and can increase the risk of developing several different types of cancers over a variable age of onset. This genetic change weakens the gene's ability to control cell growth and division.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.