Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Genetics - Health Professional Information [NCI] - Introduction
Germline DNA -based testing of the RET gene (chromosomal region 10q11.2) identifies disease-causing mutations in more than 95% of individuals with MEN2A and MEN2B and in about 88% of individuals with FMTC.
The prevalence of MEN2 has been estimated to be between 1 in 30,000 [4,5] and 1 in 35,000 individuals. The vast majority of MEN2 cases are MEN2A. In the United States, an estimated 451 cases of MEN2-related MTC are diagnosed per year.
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