BAP1 and cancer

被引：509

作者：

Carbone, Michele ^{[1
,2
]}

Yang, Haining ^{[1
,2
]}

Pass, Harvey I. ^{[3
]}

Krausz, Thomas ^{[4
]}

Testa, Joseph R. ^{[5
]}

Gaudino, Giovanni ^{[1
]}

机构：

[1] Univ Hawaii, Ctr Canc, Honolulu, HI 96813 USA

[2] Univ Hawaii, Dept Pathol, JABSOM Med Sch, Honolulu, HI 96813 USA

[3] NYU, Dept Cardiothorac Surg, New York, NY 10016 USA

[4] Univ Chicago, Dept Pathol, Chicago, IL 60637 USA

[5] Fox Chase Canc Ctr, Canc Biol Program, Philadelphia, PA 19111 USA

来源：

NATURE REVIEWS CANCER | 2013年 / 13卷 / 03期

关键词：

BRCA1-ASSOCIATED PROTEIN-1; MESOTHELIOMA EPIDEMIC; UBIQUITIN HYDROLASE; TUMOR-SUPPRESSOR; SHORT ARM; MUTATION; UVEAL; MELANOMA; COMPLEX; GENE;

D O I：

10.1038/nrc3459

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

BAP1 is a deubiquitylase that is found associated with multiprotein complexes that regulate key cellular pathways, including the cell cycle, cellular differentiation, cell death, gluconeogenesis and the DNA damage response (DDR). Recent findings indicate that germline BAP1 mutations cause a novel cancer syndrome that is characterized, at least in the affected families that have been studied so far, by the onset at an early age of benign melanocytic skin tumours with mutated BAP1, and later in life by a high incidence of mesothelioma, uveal melanoma, cutaneous melanoma and possibly additional cancers.

引用

页码：153 / 159

页数：7

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