BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Melanocytic nevus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.060 GeneticVariation disease BEFREE Germline BRCA1-associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma. 29974497 2018
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.060 AlteredExpression disease BEFREE Seven of 11 cases showed loss of nuclear BAP1 immunohistochemical (IHC) expression in the malignant component, sparing the adjacent nevus. 26645730 2016
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.060 AlteredExpression disease BEFREE We investigated BAP1 and BRAFV600E expression in 193 sporadic melanocytic lesions (11 dermal nevi, 20 congenital nevi, 40 primary and nondesmoplastic melanomas, 40 desmoplastic melanomas, 23 metastatic melanomas, 17 Spitz nevi, 19 atypical Spitz nevi, 8 atypical Spitz tumors, 14 proliferative nodules arising in congenital nevi, 1 nevus during pregnancy) and 30 melanocytic lesions from 3 patients with family history of uveal melanoma and BAP1 germline mutation. 25479927 2015
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.060 Biomarker disease BEFREE We present an unusual case of sporadic Wiesner nevus that had typical histopathologic features and a BAP1 but not a BRAF mutation. 25953246 2015
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.060 Biomarker disease BEFREE Adipocytic metaplasia and nuclear pseudoinclusions may be additional morphologic clues to a BAP1-deficient nevus. 25902915 2015
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.060 AlteredExpression disease BEFREE We describe a 21-year-old patient with multiple combined melanocytic proliferations composed of both a nevus component with strong BAP1 expression and a large epithelioid melanocyte population with loss of BAP1 expression. 23552620 2013