Oates A J, Schumaker L M, Jenkins S B, Pearce A A, DaCosta S A, Arun B, Ellis M J
Lombardi Cancer Center, Georgetown University, Washington, DC 20007, USA.
Breast Cancer Res Treat. 1998 Feb;47(3):269-81. 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.
最近的研究表明，在6q26 - 27的甘露糖6 - 磷酸/胰岛素样生长因子2受体基因位点（M6P/IGF2R）上，杂合性缺失（LOH）在大约30%的浸润性和原位乳腺癌中都有出现。在一些病例中，LOH与其余等位基因中的体细胞点突变相关联，这使得人们提出M6P/IGF2R是一种肿瘤抑制基因的观点。M6P/IGF2R的体细胞突变也在具有复制错误阳性（RER+）表型的肝癌和胃肠道癌症中被描述过。这些数据表明，M6P/IGF2R功能丧失突变可能参与了多种恶性肿瘤的发病机制。关于M6P/IGF2R正常功能的大量数据表明，M6P/IGF2R活性的丧失可能导致肿瘤病理生理学的多个方面出现异常，包括生长失控、细胞凋亡、血管生成和侵袭。
