These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
10. Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. Pilarski R; Cebulla CM; Massengill JB; Rai K; Rich T; Strong L; McGillivray B; Asrat MJ; Davidorf FH; Abdel-Rahman MH Genes Chromosomes Cancer; 2014 Feb; 53(2):177-82. PubMed ID: 24243779 [TBL] [Abstract][Full Text] [Related]
11. BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management. West EC; Chiappetta M; Mattingly AA; Congedo MT; Evangelista J; Campanella A; Sassorossi C; Flamini S; Rossi T; Pistoni M; Abenavoli L; Margaritora S; Lococo F; Boccuto L Clin Genet; 2024 Jun; 105(6):589-595. PubMed ID: 38506155 [TBL] [Abstract][Full Text] [Related]
12. BAPoma presenting as an incidental scalp papule: case report, literature review, and screening recommendations for BAP1 tumor predisposition syndrome. Zaayman M; Nguyen P; Silfvast-Kaiser A; Frieder J; West C; Tumminello K; Paek SY J Dermatolog Treat; 2022 Jun; 33(4):1855-1860. PubMed ID: 34106034 [TBL] [Abstract][Full Text] [Related]
13. A population-based analysis of germline BAP1 mutations in melanoma. O'Shea SJ; Robles-Espinoza CD; McLellan L; Harrigan J; Jacq X; Hewinson J; Iyer V; Merchant W; Elliott F; Harland M; Bishop DT; Newton-Bishop JA; Adams DJ Hum Mol Genet; 2017 Feb; 26(4):717-728. PubMed ID: 28062663 [TBL] [Abstract][Full Text] [Related]
14. Population-based analysis of BAP1 germline variations in patients with uveal melanoma. Repo P; Järvinen RS; Jäntti JE; Markkinen S; Täll M; Raivio V; Turunen JA; Kivelä TT Hum Mol Genet; 2019 Jul; 28(14):2415-2426. PubMed ID: 31058963 [TBL] [Abstract][Full Text] [Related]
15. BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy. Soares de Sá BC; de Macedo MP; Torrezan GT; Braga JCT; Fidalgo F; Moredo LF; Lellis R; Duprat JP; Carraro DM BMC Cancer; 2019 Nov; 19(1):1077. PubMed ID: 31706282 [TBL] [Abstract][Full Text] [Related]
16. Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Goldberg Y; Laitman Y; Ben David M; Bazak L; Lidzbarsky G; Salmon LB; Shkedi-Rafid S; Barshack I; Avivi C; Darawshe M; Shomron N; Bruchim R; Vinkler C; Yannoukakos D; Fostira F; Bernstein-Molho R; Friedman E Hum Mutat; 2021 May; 42(5):592-599. PubMed ID: 33600035 [TBL] [Abstract][Full Text] [Related]
17. Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. Haugh AM; Njauw CN; Bubley JA; Verzì AE; Zhang B; Kudalkar E; VandenBoom T; Walton K; Swick BL; Kumar R; Rana HQ; Cochrane S; McCormick SR; Shea CR; Tsao H; Gerami P JAMA Dermatol; 2017 Oct; 153(10):999-1006. PubMed ID: 28793149 [TBL] [Abstract][Full Text] [Related]
18. Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome. Lalloo F; Kulkarni A; Chau C; Nielsen M; Sheaff M; Steele J; van Doorn R; Wadt K; Hamill M; Torr B; Tischkowitz M; ; Hanson H Eur J Hum Genet; 2023 Nov; 31(11):1261-1269. PubMed ID: 37607989 [TBL] [Abstract][Full Text] [Related]
19. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. Njauw CN; Kim I; Piris A; Gabree M; Taylor M; Lane AM; DeAngelis MM; Gragoudas E; Duncan LM; Tsao H PLoS One; 2012; 7(4):e35295. PubMed ID: 22545102 [TBL] [Abstract][Full Text] [Related]