BAP1 cancer syndrome
Friday 17 May 2013
Definition: BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21.
Germline BAP1 mutations have been recently associated with an increased risk of malignant mesothelioma, atypical melanocytic tumors and other neoplasms.
Germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and "melanocytic BAP1-mutated atypical intradermal tumors" (MBAITs), and possibly by other cancers.
MBAITs provide physicians with a marker to identify individuals who may carry germline BAP1 mutations and thus are at high risk of developing associated cancers.
BAP1-associated tumors / BPA1-mutated tumors
BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. Carbone M, Ferris LK, Baumann F, Napolitano A, Lum CA, Flores EG, Gaudino G, Powers A, Bryant-Greenwood P, Krausz T, Hyjek E, Tate R, Friedberg J, Weigel T, Pass HI, Yang H. J Transl Med. 2012 Aug 30;10:179. doi : 10.1186/1479-5876-10-179 PMID: 22935333 [Free]
Molecular pathogenesis of malignant mesothelioma. Sekido Y. Carcinogenesis. 2013 May 14. PMID: 23677068
Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation. Ribeiro C, Campelos S, Moura CS, Machado JC, Justino A, Parente B. Ann Oncol. 2013 Apr 12. PMID: 23585512
New strategies in pleural mesothelioma: BAP1 and NF2 as novel targets for therapeutic development and risk assessment. Ladanyi M, Zauderer MG, Krug LM, Ito T, McMillan R, Bott M, Giancotti F. Clin Cancer Res. 2012 Sep 1;18(17):4485-90. doi : 10.1158/1078-0432.CCR-11-2375 PMID: 22825583
Germline BAP1 mutations predispose to malignant mesothelioma. Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M. Nat Genet. 2011 Aug 28;43(10):1022-5. doi : 10.1038/ng.912 PMID: 21874000