Association between Germline Mutations in the RET Proto-Oncogene and Colorectal Cancer and Polyps

R. Guy
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Abstract

The RET proto-oncogene is located on chromosome 10q11.2 and encodes a transmembrane receptor tyrosine kinase that has three unique isoforms [1]. Four ligands can bind and activate RET, leading to the aberrant activity of several signaling pathways including PI3K/Akt and MAPK pathway [2]. The aberrant expression of RET may function as an oncogene in certain solid tumor malignancies including papillary, medullary thyroid cancers and the multiple endocrine neoplasm type 2 (MEN2) syndrome [3,4].
RET原癌基因种系突变与结直肠癌癌症和息肉的关系
RET原癌基因位于染色体10q11.2上,编码一种跨膜受体酪氨酸激酶,该激酶具有三种独特的亚型[1]。四种配体可以结合并激活RET,导致几种信号通路的异常活性,包括PI3K/Akt和MAPK通路[2]。RET的异常表达可能在某些实体瘤恶性肿瘤中起致癌基因的作用,包括甲状腺乳头状癌、髓质癌和2型多发性内分泌肿瘤(MEN2)综合征[3,4]。
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