Goodfellow P J, Wells S A
Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA.
J Natl Cancer Inst. 1995 Oct 18;87(20):1515-23. doi: 10.1093/jnci/87.20.1515.
The RET proto-oncogene encodes a protein receptor tyrosine kinase. RET mutations are associated with the dominantly inherited cancer syndromes multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC). In MEN 2A, MEN 2B, and FMTC, direct detection of RET mutations can be used to identify disease allele carriers prior to the development of clinically evident neoplasms. RET mutations are also associated with sporadic thyroid carcinomas. The effects of RET mutation on protein function have been investigated both in vivo and in vitro, and the study of RET has served to provide insights into the mechanisms of tumorigenesis in general.
RET原癌基因编码一种蛋白受体酪氨酸激酶。RET突变与显性遗传癌症综合征2A型和2B型多发性内分泌肿瘤（MEN）以及家族性甲状腺髓样癌（FMTC）相关。在2A型MEN、2B型MEN和FMTC中，RET突变的直接检测可用于在临床明显肿瘤发生之前识别疾病等位基因携带者。RET突变也与散发性甲状腺癌相关。已在体内和体外研究了RET突变对蛋白质功能的影响，对RET的研究总体上有助于深入了解肿瘤发生机制。
