Gene of the month: BAP1

被引：72

作者：

Wang, Ami ^{[1
]}

Papneja, Anjali ^{[2
]}

Hyrcza, Martin ^{[1
]}

Al-Habeeb, Ayman ^{[1
]}

Ghazarian, Danny ^{[1
]}

机构：

[1] Univ Toronto, Univ Hlth Network, Dept Lab Med & Pathobiol, Toronto, ON, Canada

[2] Univ Toronto, Univ Hlth Network, Dept Dermatol, Toronto, ON, Canada

来源：

JOURNAL OF CLINICAL PATHOLOGY | 2016年 / 69卷 / 09期

关键词：

CANCER GENETICS; MELANOMA; RENAL CANCER; RENAL-CELL CARCINOMA; BRCA1-ASSOCIATED PROTEIN-1; TUMOR-SUPPRESSOR; UVEAL MELANOMA; MELANOCYTIC TUMORS; CUTANEOUS MELANOMA; EXPRESSION; CANCER; MUTATIONS; REGULATOR;

D O I：

10.1136/jclinpath-2016-203866

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

The BAP1 gene (BRCA1-associated protein 1) is a tumour suppressor gene that encodes a deubiquitinating enzyme (DUB), regulating key cellular pathways, including cell cycle, cellular differentiation, transcription and DNA damage response. Germline BAP1 mutations cause a novel cancer syndrome characterised by early onset of multiple atypical Spitz tumours and increased risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma and various other malignancies. Recognising the clinicopathological features of specific BAP1-deficient tumours is crucial for early screening/tumour detection, with significant impact on patient outcome.

引用

页码：750 / 753

页数：4

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