Basal cell carcinomas (BCC) have been recently included into the spectrum of BAP1‐tumor predisposition syndrome (TPDS). Uveal melanoma (UM) is also a tumor often observed in patients with this hereditary tumor syndrome, in particular bilateral UM is highly suspicious for BAP1‐TPDS although no...
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma We report four previously undescribed families with germline BRCA1-associated protein-1 gene ( BAP1 ) mutations and e...
Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma, uveal and cutaneous melanomas, renal cell carcinomas, basal cell and squamous cell carcinomas, as well as, although less frequently, to other cancer types [1,2,3,4,5,6]. This conditi...
et al. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin. Genet. 88, 267–272 (2015). Article CAS Google Scholar Coupier, I. et al. BAP1 and breast cancer risk. Fam. Cancer 4, 273–277 (2005). Article ...
ASCL1 is one of the master transcription factors of small cell lung carcinoma and defines SCLC-A subtype—the most abundant representative of the subtype population in human SCLC. Consequently, depletion of ASCL1 abolishes SCLC tumor growth both in vitro and in vivo [36,37]. Based on our RNA...
Adenovirus-mediated intra-tumoral delivery of the human endostatin gene inhibits tumor growth in nasopharyngeal carcinoma Int J Cancer, 118 (2006), pp. 2064-2071 Google Scholar 32 X. Yue, Y. Zuo, H. Ke, J. Luo, L. Lou, W. Qin, et al. Identification of 4-arylidene curcumin analogues ...
(UM), clear cell renal cell carcinoma (ccRCC), cutaneous melanoma, and basal cell carcinoma62. In metastatic uveal melanoma, the loss of BAP1 function is strongly associated with increased metastatic potential and poor prognosis. Several mechanisms have been proposed to explain this such as ...
Basal cell carcinomaObjectives: Patients with heterozygous germline mutations in BRCA1-associated protein 1 (BAP1), a tumor suppressor gene, develop a tumor predisposition syndrome (OMIM 614327) with increased risk of uveal and cutaneous melanomas, cutaneous atypical and epithelioid melanocytic lesions,...
The neoplasms associated with BAP1 germline PVs, also called the BAP1 tumor predisposition syndrome (TPDS), has been defined to include the core tumors cutaneous melanoma (CM), UM, RCC, pleural and peritoneal mesothelioma, meningioma, basal cell carcinoma (BCC), and BAP1-inactivated melanocytic ...
indicating the need for fine-tune adjustments in the BAP1 complex machinery in order to sustain appropriate levels for catalytic activity and accurate cellular localization, which are critical for the determinant of cell fate and transformation. The BAP1 complex has emerged as an ideal therapeutic ta...