BAP1 Missense Mutations in Cancer: Friend or Foe?

Agata Okonska; Emanuela Felley-Bosco

doi:10.1016/j.trecan.2019.09.006

BAP1 Missense Mutations in Cancer: Friend or Foe?

Trends Cancer. 2019 Nov;5(11):659-662. doi: 10.1016/j.trecan.2019.09.006. Epub 2019 Oct 28.

Authors

Agata Okonska¹, Emanuela Felley-Bosco²

Affiliations

¹ Laboratory of Molecular Oncology, Lungen- und Thoraxonkologie Zentrum, University Hospital Zurich, Sternwartstrasse 14, 8091 Zurich, Switzerland.
² Laboratory of Molecular Oncology, Lungen- und Thoraxonkologie Zentrum, University Hospital Zurich, Sternwartstrasse 14, 8091 Zurich, Switzerland. Electronic address: emanuela.felley-bosco@usz.ch.

PMID: 31735283
DOI: 10.1016/j.trecan.2019.09.006

Abstract

BRCA-associated protein-1 (BAP1) is mutated in several cancers and a few therapies targeting BAP1 loss-of-function mutations have been proposed, some of them being already tested in clinical trials. However, most of the missense mutations have not been functionally characterized, although such information is essential for successful patient stratification.

Keywords: BAP1; haploinsufficiency; loss-of-function mutations; missense mutations.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Genetic Predisposition to Disease
Humans
Mutation, Missense*
Neoplasms / genetics*
Tumor Suppressor Proteins / chemistry
Tumor Suppressor Proteins / genetics*
Tumor Suppressor Proteins / metabolism
Ubiquitin Thiolesterase / chemistry
Ubiquitin Thiolesterase / genetics*
Ubiquitin Thiolesterase / metabolism

Substances

BAP1 protein, human
Tumor Suppressor Proteins
Ubiquitin Thiolesterase