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  • Title: M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.
    Author: De Souza AT, Hankins GR, Washington MK, Orton TC, Jirtle RL.
    Journal: Nat Genet; 1995 Dec; 11(4):447-9. PubMed ID: 7493029.
    Abstract:
    The mannose 6-phosphate/insulin-like growth factor-II receptor (M6P/IGF2R) functions in the intracellular trafficking of lysosomal enzymes, the activation of the potent growth inhibitor, transforming growth factor beta 2, and the degradation of IGF2 (ref. 1), a mitogen often overproduced in tumours. We have recently shown that 70% of human hepatocellular tumours have loss of heterozygosity (LOH) at the M6P/IGF2R locus which maps to chromosome 6q26-q27 (ref. 8). Using a coarse screen, we have now identified point mutations in the remaining allele of 25% of human hepatocellular carcinomas (HCCs) with LOH. These mutations give rise to truncated receptor protein and significant amino acid substitutions, and provide evidence that the M6P/IGF2R gene functions as a tumour suppressor in human liver carcinogenesis.
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