Frequent MAGE mutations in human melanoma Journal Article


Authors: Caballero, O. L.; Zhao, Q.; Rimoldi, D.; Stevenson, B. J.; Svobodová, S.; Devalle, S.; Róhrig, U. F.; Pagotto, A.; Michielin, O.; Speiser, D.; Wolchok, J. D.; Liu, C.; Pejovic, T.; Odunsi, K.; Brasseur, F.; van den Eynde, B. J.; Old, L. J.; Lu, X.; Cebon, J.; Strausberg, R. L.; Simpson, A. J.
Article Title: Frequent MAGE mutations in human melanoma
Abstract: Background: Cancer/testis (CT) genes are expressed only in the germ line and certain tumors and are most frequently located on the X-chromosome (the CT-X genes). Amongst the best studied CT-X genes are those encoding several MAGE protein families. The function of MAGE proteins is not well understood, but several have been shown to potentially influence the tumorigenic phenotype. Methodology/Principal Findings: We undertook a mutational analysis of coding regions of four CT-X MAGE genes, MAGEA1, MAGEA4, MAGEC1, MAGEC2 and the ubiquitously expressed MAGEE1 in human melanoma samples. We first examined cell lines established from tumors and matching blood samples from 27 melanoma patients. We found that melanoma cell lines from 37% of patients contained at least one mutated MAGE gene. The frequency of mutations in the coding regions of individual MAGE genes varied from 3.7% for MAGEA1 and MAGEA4 to 14.8% for MAGEC2. We also examined 111 fresh melanoma samples collected from 86 patients. In this case, samples from 32% of the patients exhibited mutations in one or more MAGE genes with the frequency of mutations in individual MAGE genes ranging from 6% in MAGEA1 to 16% in MAGEC1. Significance: These results demonstrate for the first time that the MAGE gene family is frequently mutated in melanoma. © 2010 Caballero et al.
Keywords: adult; controlled study; human tissue; aged; aged, 80 and over; middle aged; gene mutation; human cell; major clinical study; sequence analysis; somatic mutation; genetics; mutation; melanoma; neoplasm proteins; tumor cell culture; tumor cells, cultured; mutational analysis; tumor antigen; antigens, neoplasm; tumor protein; x chromosome; tumor gene; magec2 protein, human; mage gene; magea1 gene; magea4 gene; magec1 gene; magec2 gene; magee1 gene; magea1 protein, human; magea4 protein, human; magec1 protein, human
Journal Title: PLoS ONE
Volume: 5
Issue: 9
ISSN: 1932-6203
Publisher: Public Library of Science  
Date Published: 2010-09-16
Start Page: e12773
Language: English
DOI: 10.1371/journal.pone.0012773
PUBMED: 20862285
PROVIDER: scopus
PMCID: PMC2940856
DOI/URL:
Notes: --- - "Cited By (since 1996): 1" - "Export Date: 20 April 2011" - "Art. No.: e12773" - "Source: Scopus"
Altmetric
Citation Impact
MSK Authors
  1. Jedd D Wolchok
    898 Wolchok
  2. Cailian Liu
    60 Liu
  3. Lloyd J Old
    593 Old