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Updated: Dec 31, 2025

In Vitro Ubiquitination and Deubiquitination Assays of Nucleosomal Histones
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BAP1 GERMLINE MUTATION WITH IRIDOCILIOCHOROIDAL MELANOMA AND MALIGNANT PERITONEAL MESOTHELIOMA

Antonio Yaghy1, Li-Anne Lim, Arman Mashayekhi

  • 1Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.

Retinal Cases & Brief Reports
|January 3, 2020
PubMed
Abstract

Insights

Germline mutations in BAP1 (BRCA1-associated protein 1) increase the risk of uveal melanoma and malignant peritoneal mesothelioma. This case report highlights the importance of cancer screening for these conditions.

Area of Science:

  • Oncology
  • Genetics
  • Ophthalmology

Background:

  • Germline mutations in the BAP1 gene are associated with an increased risk of certain cancers.
  • Uveal melanoma is a rare but aggressive form of eye cancer.
  • Mesothelioma is a cancer that affects the lining of the chest or abdomen.

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