1. The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R), a putative breast tumor suppressor gene.
- Author
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Oates AJ, Schumaker LM, Jenkins SB, Pearce AA, DaCosta SA, Arun B, and Ellis MJ
- Subjects
- Animals, Humans, Mammary Neoplasms, Experimental genetics, Mammary Neoplasms, Experimental ultrastructure, Mannosephosphates metabolism, Receptor, IGF Type 2 metabolism, Breast Neoplasms genetics, Breast Neoplasms ultrastructure, Genes, Tumor Suppressor, Mannosephosphates genetics, Receptor, IGF Type 2 genetics
- Abstract
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. Somatic mutations in M6P/IGF2R have also been described in hepatoma and gastrointestinal cancers with the replication error positive (RER+) phenotype. 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.
- Published
- 1998
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