Multiple endocrine neoplasia type 2 causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Multiple endocrine neoplasia type 2 is caused by a mutation in the RET gene.
Causes
- Mutations in the RET proto-oncogene cause multiple endocrine neoplasia type 2.[1]
- The protein produced by the RET proto-oncogene gene normally plays an important role in signaling cells to respond to their environment, for example by dividing or maturing. Mutations in this gene cause an overactivation of the protein's signaling function, which can lead to an overgrowth of cells and the formation of tumors characteristic of multiple endocrine neoplasia type 2.
- MEN2A patients with cutaneous lichen amyloidosis have mutation in codon 634.[2]
- Patients with MEN2A and Hirschsprung disease observed mutations involving RET exon 10.[3]
References
- ↑ Marquard, Jessica; Eng, Charis (September 27, 1999). "Multiple Endocrine Neoplasia Type 2". GeneReviews® [Internet].
- ↑ Qi, Xiao-Ping; Peng, Jian-Zhong; Yang, Xiao-Wei; Cao, Zhi-Lie; Yu, Xiu-Hua; Fang, Xu-Dong; Zhang, Da-Hong; Zhao, Jian-Qiang (2018). "The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis". Endocrine Connections. 7 (9): 998–1005. doi:10.1530/EC-18-0220. ISSN 2049-3614.
- ↑ Moore, SW; Zaahl, M (2012). "The Hirschsprung's–multiple endocrine neoplasia connection". Clinics. 67 (S1): 63–67. doi:10.6061/clinics/2012(Sup01)12. ISSN 1807-5932.