BAP1-related tumor predisposition syndrome

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BAP1-related tumor predisposition syndrome

Synonyms: Tumor susceptibility linked to germline BAP1 mutations

BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma malignant mesothelioma renal cell carcinoma lung ovarian pancreatic breast cancer and meningioma with variable age of onset. Common cutaneous manifestations include malignant melanoma basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated well-circumscribed papules with an average size of 5 mm histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm prominent nucleoli and large vesicular nuclei that vary substantially in size and shape.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


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