Open AccessIntracranial Germ Cell Tumors: Detection of p53 Gene Mutations by Single‐strand Conformation Polymorphism Analysis
Author(s) -
Feng Xuelian,
Zhang Shujing,
Ichikawa Tomio,
Koga Hisashi,
Washiyama Kazuo,
Motoyama Teiichi,
Kumanishi Toshiro
Publication year - 1995
Publication title -
japanese journal of cancer research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.035
H-Index - 141
eISSN - 1349-7006
pISSN - 0910-5050
DOI - 10.1111/j.1349-7006.1995.tb02434.x
Subject(s) - missense mutation , biology , single strand conformation polymorphism , carcinogenesis , genetics , nonsense mutation , mutation , microbiology and biotechnology , germline mutation , gene mutation , silent mutation , gene , rna splicing , germ cell tumors , cancer research , rna , chemotherapy
Using polymerase chain reaction‐single‐strand conformation polymorphism (PCR‐SSCP) analysis, p53 gene mutation was examined in 12 intracranial germ cell tumors (5 yolk sac carcinomas and 7 germinomas), many of which were derived from young patients in the first to the second decade. A total of 10 mutations were detected in 4 of the 12 cases and, in 3 of them, the mutations were multiple or tandem. Among the 10 mutations, 7 were missense, 1 was splicing and 2 were silent. The 7 missense mutations were located at previously proposed hot spot codons or in their vicinity or, when outside the hot spots, at a codon encoding an amino acid conserved in most vertebrates. These findings suggested that all 7 missense mutations may actually give rise to functional alteration of the p53 protein. The splicing mutation was considered to be a germ‐line mutation, though its biological effect was equivocal, since the neoplastic tissue contained an additional mutation. The pattern of the mutations was predominancy of G:C‐A:T transition with frequent involvement of the CpG site. These mutations were more frequently detected in yolk sac carcinomas (60%; 3/5 cases) than in germinomas (14%; 1/7 cases), suggesting that the contribution of the p53 mutation to carcinogenesis differed with the histological type of the intracranial germ cell tumor.