Pasini B, Ceccherini I, Romeo G
Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini Largo G., Genova, Quarto, Italy.
Trends Genet. 1996 Apr;12(4):138-44. doi: 10.1016/0168-9525(96)10012-3.
The RET proto-oncogene is at the origin of one of the most interesting models of human disease caused by mutations in a receptor tyrosine kinase gene. Somatic rearrangements of RET are involved in the aetiology of a variable proportion of papillary thyroid carcinomas (PTC), the most common type of thyroid tumour whose prevalence is increasing in areas heavily exposed to radioactive fallout after the Chernobyl accident of 1986. Moreover, germline RET mutations are associated with the three variants of the inherited cancer syndrome known as multiple endocrine neoplasia type 2 (MEN2A, MEN2B and FMTC). Finally, RET mutations or heterozygous deletions of the whole gene cause the autosomal dominant form of Hirschsprung disease (HSCR), a congenital disorder of the enteric nervous system (ENS).
RET原癌基因是由受体酪氨酸激酶基因突变引起的人类疾病中最有趣的模型之一的起源。RET的体细胞重排参与了不同比例的乳头状甲状腺癌（PTC）的病因学，PTC是最常见的甲状腺肿瘤类型，在1986年切尔诺贝利事故后受放射性尘埃严重影响的地区，其患病率正在上升。此外，种系RET突变与遗传性癌症综合征的三种变体相关，即2型多发性内分泌腺瘤病（MEN2A、MEN2B和FMTC）。最后，RET突变或整个基因的杂合缺失导致常染色体显性形式的先天性巨结肠症（HSCR），这是一种肠道神经系统（ENS）的先天性疾病。
