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

Publication date: Available online 22 December 2015 Source:Cancer Genetics Author(s): Kevin McDonnell, Gregory T. Gallanis, Kathleen A. Heller, Eleni-Marina Melas, Gregory Idos, Julie O. Culver, Sue-Ellen Martin, David H. Peng, Stephen B. Gruber 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.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research