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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  These results demonstrate for the first time that the MAGE gene family is frequently mutated in melanoma.
authors.affiliation: Ludwig Institute for Cancer Research Ltd, New York Branch at Memorial Sloan-Kettering Cancer Center, New York, New York, USA. ocaball1@jhmi.edu
authors.forename: Otavia L
authors.initials: OL
authors.lastname: Caballero
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhao
authors.forename: Donata
authors.initials: D
authors.lastname: Rimoldi
authors.forename: Brian J
authors.initials: BJ
authors.lastname: Stevenson
authors.forename: Suzanne
authors.initials: S
authors.lastname: Svobodová
authors.forename: Sylvie
authors.initials: S
authors.lastname: Devalle
authors.forename: Ute F
authors.initials: UF
authors.lastname: Röhrig
authors.forename: Anna
authors.initials: A
authors.lastname: Pagotto
authors.forename: Olivier
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authors.lastname: Michielin
authors.forename: Daniel
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authors.lastname: Speiser
authors.forename: Jedd D
authors.initials: JD
authors.lastname: Wolchok
authors.forename: Cailian
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authors.lastname: Liu
authors.forename: Tanja
authors.initials: T
authors.lastname: Pejovic
authors.forename: Kunle
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authors.lastname: Odunsi
authors.forename: Francis
authors.initials: F
authors.lastname: Brasseur
authors.forename: Benoit J
authors.initials: BJ
authors.lastname: Van den Eynde
authors.forename: Lloyd J
authors.initials: LJ
authors.lastname: Old
authors.forename: Xin
authors.initials: X
authors.lastname: Lu
authors.forename: Jonathan
authors.initials: J
authors.lastname: Cebon
authors.forename: Robert L
authors.initials: RL
authors.lastname: Strausberg
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Simpson
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000951:Antigens, Neoplasm / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D058950:Melanoma-Specific Antigens; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D000951:Antigens, Neoplasm; C072011:MAGEA1 protein, human; C095204:MAGEA4 protein, human; C110905:MAGEC1 protein, human; C405429:MAGEC2 protein, human; D058950:Melanoma-Specific Antigens; D009363:Neoplasm Proteins