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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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M6P/ IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.

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.[1]

References

  1. M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity. De Souza, A.T., Hankins, G.R., Washington, M.K., Orton, T.C., Jirtle, R.L. Nat. Genet. (1995) [Pubmed]
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