High-throughput oncogene mutation profiling shows demographic differences in BRAF mutation rates among melanoma patients

Melanoma Research
Karin van den HurkWilliam M Gallagher

Abstract

Because of advances in targeted therapies, the clinical evaluation of cutaneous melanoma is increasingly based on a combination of traditional histopathology and molecular pathology. Therefore, it is necessary to expand our knowledge of the molecular events that accompany the development and progression of melanoma to optimize clinical management. The central objective of this study was to increase our knowledge of the mutational events that complement melanoma progression. High-throughput genotyping was adapted to query 159 known single nucleotide mutations in 33 cancer-related genes across two melanoma cohorts from Ireland (n=94) and Belgium (n=60). Results were correlated with various clinicopathological characteristics. A total of 23 mutations in 12 genes were identified, that is--BRAF, NRAS, MET, PHLPP2, PIK3R1, IDH1, KIT, STK11, CTNNB1, JAK2, ALK, and GNAS. Unexpectedly, we discovered significant differences in BRAF, MET, and PIK3R1 mutations between the cohorts. That is, cases from Ireland showed significantly lower (P<0.001) BRAF mutation rates (19%) compared with the mutation frequency observed in Belgian patients (43%). Moreover, MET mutations were detected in 12% of Irish cases, whereas none of the Belgian patients h...Continue Reading

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Citations

Dec 2, 2015·Expert Review of Molecular Diagnostics·Mona FothWilliam M Gallagher
Sep 20, 2015·Pigment Cell & Melanoma Research·Dorothy C Bennett
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Jul 16, 2019·Melanoma Research·Karen A MalkhasyanYousef Zakharia
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Mar 1, 2016·Melanoma Management·Russell W Jenkins, Ryan J Sullivan
Jul 17, 2018·Journal of Cancer Research and Clinical Oncology·Susan KennedyAnnemarie Larkin

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Methods Mentioned

BETA
genotyping
Assay
chips

Software Mentioned

Sequenom
Sequenom Typer
Sequenom Assay Design
SPSS Statistics

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