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Related Experiment Video

Updated: May 15, 2026

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

Published on: July 25, 2019

Tumours associated with BAP1 mutations.

Rajmohan Murali¹, Thomas Wiesner, Richard A Scolyer

¹Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA. MuraliR@mskcc.org

|January 2, 2013

Summary

This summary is machine-generated.

BRCA1-Associated Protein 1 (BAP1) is a tumor suppressor. Mutations in BAP1 increase cancer risk, including melanoma and mesothelioma. Identifying BAP1 mutations aids in diagnosing and managing these cancers.

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Comparative Lesions Analysis Through a Targeted Sequencing Approach

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In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones

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Published on: July 25, 2019

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Area of Science:

Oncology
Genetics
Molecular Biology

Background:

BRCA1-Associated Protein 1 (BAP1) is a tumor suppressor involved in chromatin modulation and transcriptional regulation.
Germline and somatic mutations in BAP1 are associated with an increased susceptibility to various cancers.

Purpose of the Study:

To review the functional roles of BAP1.
To summarize the spectrum of tumors associated with BAP1 mutations.
To guide pathologists and clinicians in identifying BAP1-associated tumors and potential BAP1 mutations.

Main Methods:

Literature review of BAP1's functional roles.
Compilation of data on tumors linked to BAP1 mutations.
Discussion of diagnostic approaches including immunohistochemistry (IHC) and sequencing.

Main Results:

BAP1 mutations are implicated in uveal melanoma, epithelioid atypical Spitz tumors, cutaneous melanoma, mesothelioma, and clear cell renal cell carcinoma.
Immunohistochemistry (IHC) showing loss of nuclear BAP1 staining can indicate BAP1 inactivation.
Confirmation of BAP1 mutations via sequencing is recommended for equivocal IHC results.

Conclusions:

Awareness of BAP1-associated tumors is crucial for timely diagnosis and management.
Pathologists should consider BAP1 testing in specific tumor types like epithelioid atypical Spitz tumors and uveal melanomas.
Confirmation of somatic BAP1 mutations should prompt consideration of germline testing and genetic counseling for patients and families.