DaCosta S A, Schumaker L M, Ellis M J
Lombardi Cancer Center, Georgetown University, Washington, DC 20007, USA.
J Mammary Gland Biol Neoplasia. 2000 Jan;5(1):85-94. doi: 10.1023/a:1009571417429.
The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) is considered a "candidate" tumor suppressor gene. This hypothesis has been provoked by the identification of loss of heterozygosity (LOH) at the M6P/IGF2R locus on chromosome 6q26 in breast and liver cancer, accompanied by point mutations in the remaining allele. Somatic mutations in coding region microsatellites have also been described in replication error positive (RER+) tumors of the gastrointestinal tract, endometrium and brain. These genetic data are compelling, but a tumor suppressor gene candidate has to meet functional as well as genetic criteria. This review weighs the evidence and discusses the observations that are necessary to promote M6P/IGF2R from candidate to bona fide tumor suppressor gene.
甘露糖6-磷酸/胰岛素样生长因子2受体（M6P/IGF2R）被认为是一种“候选”肿瘤抑制基因。在乳腺癌和肝癌中，6号染色体q26区域的M6P/IGF2R基因座出现杂合性缺失（LOH），同时其余等位基因发生点突变，这引发了上述假说。胃肠道、子宫内膜和脑的复制错误阳性（RER+）肿瘤中也有编码区微卫星的体细胞突变的报道。这些遗传学数据很有说服力，但候选肿瘤抑制基因必须满足功能和遗传学标准。本综述权衡了相关证据，并讨论了将M6P/IGF2R从候选基因提升为真正的肿瘤抑制基因所需的观察结果。
