IndraLab

Statements

BAP1 inhibits Nevus. 4 / 4
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"BINs are highly penetrant, present in up to 90% of mutation carriers, and typically present as multiple, skin colored or reddish-brown, dome-shaped melanocytic tumors (also or previously called BAP1-inactivlated melanocytic tumors, Wiesner nevi, BAPomas, nevoid melanoma-like melanocytic proliferations, BAP1 mutant Spitz nevi, and melanocytic BAP1-mutated atypical intradermal tumors)."
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"Pathologists can enable identification of patients at risk by recognizing BAP1-inactivated nevi."
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"Morphology of this secondary clone strictly depends on the type of second genetic hit: inactivation of the BAP1 (BRCA1-associated protein) gene is the hallmark of BAP1-inactivated nevus (BIN) (33, 34); gain-of-function mutations of CTNNB1 or loss of APC is found in deep penetrating nevus (DPN) (35, 36); loss-of-function of PRKAR1A is typical of pigmented epithelioid melanocytoma (PEM) (37, 38)."
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"Affected individuals initially present with multiple skin-colored or light red dome-shaped papules, so-called BAP1-inactivated nevi/melanocytoma of the skin and develop meningiomas by the time they reach 50 years [57]."
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