作者: L. M. Mulligan , G. J. Matlashewski , H. J. Scrable , W. K. Cavenee
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摘要: Abstract An important role for the p53 gene in neoplastic transformation vitro and vivo has been imputed by functional studies identification of tumor-acquired defects or alterations its expression. To study generality mechanisms alteration human cancer, we examined 241 tumors several types structural aberrations locus. Alterations RNA protein products consistent with loss function either recessive dominant were identified among this set uniquely rhabdomyosarcomas osteosarcomas. The rhabdomyosarcoma included cases complete deletion both alleles, deletions one allele without point mutation remaining allele, absence detectable RNA. Similarly, detected homozygous lack expression aberrant These observations provide strong support inclusion locus group loci whose inactivation modes plays a significant cancer.