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Geoffrey W. Krampitz and Jeffrey A. Norton RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma Cancer 120

Version of Record online: 3 APR 2014 | DOI: 10.1002/cncr.28661

MEN2 is a genetic syndrome caused by mutations in the RET proto-oncogene with different penetrance producing 3 variants, MEN2A, MEN2B, and FMTC, each of which is characterized by MTC. The discovery of RET mutations that cause MEN2 lead to the development of genetic testing that enabled personalized approaches to diagnosis, risk stratification, and appropriate treatment.

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