has material basis in germline mutation in BAP1 BAP1-related tumor predisposition syndrome https://github.com/monarch-initiative/mondo/issues/8567 https://www.malacards.org/card/bap1_related_tumor_predisposition_syndrome https://www.malacards.org/card/tumor_predisposition_syndrome_1 BAP1 tumor predisposition syndrome UMLS:C3280492 MONDO:0013692 NCIT:C172639 tumour susceptibility linked to germline BAP1 mutations GARD:0013219 BAP1 tumour predisposition syndrome TPDS Orphanet:289539 SCTID:765057007 MEDGEN:482122 tumour predisposition syndrome OMIM:614327 tumor susceptibility linked to germline BAP1 mutations tumor predisposition syndrome 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. BAP1-related tumor predisposition syndrome hereditary neoplastic syndrome