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

• Published in: Breast cancer research and treatment Vol. 47; no. 3; pp. 269 - 281
• Main Authors: Oates, A J, Schumaker, L M, Jenkins, S B, Pearce, A A, DaCosta, S A, Arun, B, Ellis, M J
• Format: Journal Article
• Language: English
• Published: Netherlands Springer Nature B.V 01.02.1998
• Subjects: Animals; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - ultrastructure; Cancer; Cancer research; Genes, Tumor Suppressor; Humans; Insulin-like growth factors; Mammary Neoplasms, Experimental - genetics; Mammary Neoplasms, Experimental - ultrastructure; Mannosephosphates - genetics; Mannosephosphates - metabolism; Mutation; Receptor, IGF Type 2 - genetics; Receptor, IGF Type 2 - metabolism
• ISSN: 0167-6806; 1573-7217
• DOI: 10.1023/A:1005959218524

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.