The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R), a putative breast tumor suppressor gene.
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.
Oates
A J
AJ
Lombardi Cancer Center, Georgetown University, Washington, DC 20007, USA.
Schumaker
L M
LM
Jenkins
S B
SB
Pearce
A A
AA
DaCosta
S A
SA
Arun
B
B
Ellis
M J
MJ
D000818:Animals; D001943:Breast Neoplasms / Q000235:genetics* / Q000648:ultrastructure*; D016147:Genes, Tumor Suppressor; D006801:Humans; D008325:Mammary Neoplasms, Experimental / Q000235:genetics / Q000648:ultrastructure; D008360:Mannosephosphates / Q000235:genetics* / Q000378:metabolism; D017527:Receptor, IGF Type 2 / Q000235:genetics* / Q000378:metabolism
D008360:Mannosephosphates; D017527:Receptor, IGF Type 2; C027693:mannose-6-phosphate