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Cancer Genet. 2016 Mar;209(3):75-81. doi: 10.1016/j.cancergen.2015.12.007. Epub 2015 Dec 22.

A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer.

Author information

1
USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.
2
USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA; Keck School of Medicine, Department of Pathology, University of Southern California, Los Angeles, CA, USA.
3
USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA; Department of Dermatology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
4
USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA. Electronic address: sgruber@med.usc.edu.

Abstract

Germline mutations in the tumor suppressor gene, BRCA-1 associated protein (BAP1), underlie a tumor predisposition syndrome characterized by increased risk for numerous cancers including uveal melanoma, melanocytic tumors and mesothelioma, among others. In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. Family members with this mutation demonstrated a primary clinical phenotype of autosomal dominant, early-onset melanocytic neoplasms with immunohistochemistry (IHC) of these tumors demonstrating lack of BAP1 protein expression. In addition, family members harboring the BAP1 c.1777C>T germline mutation developed other neoplastic disease including thyroid cancer. IHC analysis of the thyroid cancer, as well, demonstrated loss of BAP1 protein expression. Our investigation identifies a new BAP1 mutation, further highlights the relevance of BAP1 as a clinically important tumor suppressor gene, and broadens the range of cancers associated with BAP1 inactivation. Further study will be required to understand the full scope of BAP1-associated neoplastic disease.

KEYWORDS:

BAP1; Cancer genetics; melanoma; thyroid cancer; tumor predisposition syndrome

PMID:
26774355
PMCID:
PMC6447287
DOI:
10.1016/j.cancergen.2015.12.007
[Indexed for MEDLINE]
Free PMC Article

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