GRCh38 · COSMIC v92

Summary

This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Reference
Molecular and immunohistochemical analyses of uveal melanoma patient cohort.
Paper ID
COSP47578
Authors
Sarubi HC, Pereira NB, Gomes CC, Gomez RS, Carmo ACM, Melo FM, Bastos-Rodrigues L, Pedrosa MS, Friedman E and De Marco L
Affiliation
Departments of Surgery.
Journal
Melanoma research, 2019;29(3):248-253
ISSN: 1473-5636
PMID: 30480620 (view at PubMed or Europe PMC)
Abstract
Uveal melanoma is a rare form of melanoma and the most frequent primary eye malignancy in adults. The major molecular alterations underlying uveal melanoma pathogenesis affect mainly the GNAQ, GNA11, SF3B1, and BAP1 genes. In this study, we somatically genotyped 31 Brazilian uveal melanomas for BRAF, GNA11, GNAQ, SF3B1, and BAP1 gene mutations and assessed BRCA2 and p53 protein expression. GNAQ and GNA11 mutations were detected in 60%, and SF3B1 mutation rate was 30%. p53 Immunostaining was markedly positive in 5/31, and 3/31 samples showed negative BRCA2 expression. This study supports the importance of these key genes in uveal melanoma tumorigenesis; p53 and BRCA pathways seem to play a role in a subset of patients, possibly heralding unfavorable prognosis.
Paper Status
Curated