The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R), a putative breast tumor suppressor gene

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作者：

AJ Oates，LM Schumaker，SB Jenkins，AA Pearce，SA Dacosta，B Arun，MJC Ellis

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摘要：

Loss of heterozygosity (LOH) at the mannose 6-phosphate/insulin-like growth factor 2 receptor gene locus (M6P/IGF2R) on 6q26-27 has recently been demonstrated in approximately 30% of both invasive and in situ breast cancers. LOH was coupled with somatic point mutations in the remaining allele in several instances, leading to the proposition that M6P/IGF2R is a tumor suppressor gene [1]. Somatic mutations in M6P/IGF2R have also been described in hepatoma [2] and gastrointestinal cancers with the replication error positive (RER+) phenotype [3]. These data indicate that M6P/IGF2R loss of function mutations may be involved in the pathogenesis of a wide spectrum of malignancies. Extensive data on the normal function of the M6P/IGF2R suggest that loss of M6P/IGF2R activity may contribute to multiple aspects of tumor pathophysiology, including deregulated growth, apoptosis, angiogenesis and invasion.

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关键词：

loss of heterozygosity mannose 6 phosphate/insulin like growth factor 2 receptor microsatellite instability tumor suppressor gene

DOI：

10.1023/A:1005959218524

被引量：

226

年份：

1998