TY - JOUR
T1 - Frequent MAGE mutations in human melanoma
AU - Caballero, Otavia L.
AU - Zhao, Qi
AU - Rimoldi, Donata
AU - Stevenson, Brian J.
AU - Svobodová, Suzanne
AU - Devalle, Sylvie
AU - Róhrig, Ute F.
AU - Pagotto, Anna
AU - Michielin, Olivier
AU - Speiser, Daniel
AU - Wolchok, Jedd D.
AU - Liu, Cailian
AU - Pejovic, Tanja
AU - Odunsi, Kunle
AU - Brasseur, Francis
AU - van den Eynde, Benoit J.
AU - Old, Lloyd J.
AU - Lu, Xin
AU - Cebon, Jonathan
AU - Strausberg, Robert L.
AU - Simpson, Andrew J.
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
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U2 - 10.1371/journal.pone.0012773
DO - 10.1371/journal.pone.0012773
M3 - Article
C2 - 20862285
AN - SCOPUS:77958594600
SN - 1932-6203
VL - 5
SP - 1
EP - 7
JO - PloS one
JF - PloS one
IS - 9
M1 - e12773
ER -