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A novel germline point mutation, c.2304 G→T, in codon 768 of the RET proto‐oncogene in a patient with medullary thyroid carcinoma

<h5>To the Editor:</h5> Medullary thyroid carcinoma (MTC) is a neoplasm of the C cells of the thyroid and represents 10–15% of all thyroid carcinomas. MTC is sporadic in 75% of all presentations and hereditary in 25% of cases. Hereditary MTC is well defined: germline gain‐of‐function mutations in the RET proto‐oncogene cause multiple endocrine neoplasia type 2 (MEN 2) which is decided into MEN 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC) [Takahashi and Cooper, 1987 ]. As of 1996, germline mutations in exons 10, 11, and 13–16 of the RET proto‐oncogene have been described in 92% of MEN 2 cases [Eng et al., 1996 ]. The E768D mutation (c.2304 G → C [Antonarakis, 1998 ]) of the RET proto‐oncogene was identified for the first time in 1995 in a multigenerational family affected by FMTC [Eng et al., 1995 ]. Later, this same mutation was identified in other families with FMTC unrelated to the family in which it was initially described [Bolino et al., 1995 ; Boccia et al., 1997 ; Miyauchi et al., 1997 ]. It is interesting to note that the same mutation was identified in the tumor‐derived DNA in patients affected by sporadic MTC, supporting http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

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