BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 Biomarker disease BEFREE As our BCCs probably developed independently from the BAP1-TPDS and UMs frequently show loss of nuclear BAP1 staining, genetic analysis is mandatory to diagnose this syndrome. 30578689 2019
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 GeneticVariation disease BEFREE Germline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma. 28062663 2017
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 Biomarker disease CTD_human Moreover, many tumors harboring BAP1 germline mutations were associated with BAP1 syndrome, including mesothelioma and ocular/cutaneous melanomas, as well as renal, breast, lung, gastric, and basal cell carcinomas. 26719535 2016
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 GeneticVariation disease BEFREE Moreover, many tumors harboring BAP1 germline mutations were associated with BAP1 syndrome, including mesothelioma and ocular/cutaneous melanomas, as well as renal, breast, lung, gastric, and basal cell carcinomas. 26719535 2016
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 CausalMutation disease CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 Biomarker disease BEFREE In conclusion, cutaneous follow-up of BAP1 carriers should not only aim to detect melanocytic neoplasms but also BCCs. 25080371 2015
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 AlteredExpression disease BEFREE This notion is supported by the finding of loss of BAP1 protein expression by immunochemistry in two BCCs from individuals with germline BAP1 mutations and no loss of BAP1 staining in 53 of sporadic BCCs consistent with somatic mutations and loss of heterozygosity of the gene in the BCCs occurring in mutation carriers. 25225168 2015
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.460 AlteredExpression disease BEFREE Loss of BAP1 expression could be associated with the development of BCC in patients with germline BAP1 mutations. 25972334 2015