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Updated: May 12, 2026

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones
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Published on: July 25, 2019

BAP1 and cancer.

Michele Carbone1, Haining Yang, Harvey I Pass

  • 1University of Hawaii Cancer Center, BSB200, 701 Ilalo Street, Honolulu, Hawaii 96813, USA. mcarbone@cc.hawaii.edu

Nature Reviews. Cancer
|April 4, 2013
PubMed
Summary
This summary is machine-generated.

Germline mutations in the BAP1 gene cause a new cancer syndrome. This syndrome leads to early-onset skin tumors and later increases the risk of mesothelioma and melanoma.

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • The BAP1 protein is a deubiquitylase involved in regulating crucial cellular processes.
  • These processes include cell cycle, differentiation, cell death, gluconeogenesis, and DNA damage response (DDR).

Purpose of the Study:

  • To investigate the role of germline BAP1 mutations in a novel cancer syndrome.
  • To characterize the clinical presentation and associated cancers in affected families.

Main Methods:

  • Genetic analysis of BAP1 in affected individuals and families.
  • Clinical evaluation and pathological review of tumors.

Main Results:

  • Germline BAP1 mutations were identified as causative for a distinct cancer predisposition syndrome.
  • The syndrome is characterized by early-onset benign melanocytic skin tumors.
  • Affected individuals have a high incidence of mesothelioma, uveal melanoma, and cutaneous melanoma later in life.

Conclusions:

  • Germline BAP1 mutations define a new hereditary cancer syndrome.
  • Early detection and surveillance are crucial for individuals with BAP1 mutations to manage associated cancer risks.