Premium
Is quantitative real time polymerase chain reaction MCAM transcript assay really suitable for prognostic and predictive management of melanoma patients?
Author(s) -
Capoluongo E.,
Paolillo C.,
Vendittelli F.
Publication year - 2014
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.12818
Subject(s) - context (archaeology) , medicine , melanoma , biomarker , disease , surrogate endpoint , real time polymerase chain reaction , predictive marker , oncology , polymerase chain reaction , circulating tumor cell , phenotype , cancer research , cancer , metastasis , biology , gene , paleontology , biochemistry
Background: Recent advances in next generation sequencing (NGS) technology have enabled comprehensive and accurate screening of the entire genomic region of BRCA1/2 genes and, to date, many studies report the effectiveness of these technologies. Here we show that Gene Scan (GS) labeling Quality Control (QC), performed before massive parallel pyrosequencing, coupled with Multiple Amplicon Quantification software (MAQ-S) analysis is a rapid and powerful tool in the detection of deleterious BRCA mutations carried by different patients. \udMethods: GS labeling QC assay was performed according to the manufacturers' instructions and MAQ-S software was employed for analysis results. \udResults: GS labeling QC was able to detect 14 different BRCA frameshift mutations in our patients. In addition, two novel BRCA mutations (c.1893_1894in5TTAAGCCCACAAAT in BRCA1 gene and c.9413_9414insT in BRCA2 gene) were identified. \udConclusion: We prove that a simple QC step may represent a valid and useful tool for a rapid detection of frameshift mutations in BRCA genes. For this reason, we recommend using this approach before massive parallel sequencing. (C) 2014 Elsevier B.V. All rights reserved