Frequent MAGE mutations in human melanoma

Otavia L. Caballero, Qi Zhao, Donata Rimoldi, Brian J. Stevenson, Suzanne Svobodová, Sylvie Devalle, Ute F. Róhrig, Anna Pagotto, Olivier Michielin, Daniel Speiser, Jedd D. Wolchok, Cailian Liu, Tanja Pejovic, Kunle Odunsi, Francis Brasseur, Benoit J. van den Eynde, Lloyd J. Old, Xin Lu, Jonathan Cebon, Robert L. StrausbergAndrew J. Simpson

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


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.

Original languageEnglish (US)
Article numbere12773
Pages (from-to)1-7
Number of pages7
JournalPloS one
Issue number9
StatePublished - 2010

ASJC Scopus subject areas

  • General


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