RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma

Thyroid : Official Journal of the American Thyroid Association
Xiao-Ping QiJian-Qiang Zhao

Abstract

Background: Inherited medullary thyroid carcinoma (MTC) is primarily caused by RET mutations that are commonly localized in exons 5, 8, 10, 11, and 13-16. In this study, we report pedigrees for individuals with MTC that harbor a germline S409Y variant within exon 6 of the RET proto-oncogene. Methods: Targeted sequencing was used to diagnose four apparently sporadic MTC index cases carrying the germline RET S409Y (c.1226 C>A) variant. Subsequently, 27 relatives of these individuals underwent clinical and genetic assessments and/or thyroid surgery. Furthermore, in silico analyses and in vitro assays were performed to predict or verify the potential oncogenic activity of the S409Y variant. Results: Overall, 15 of 31 participants were found to carry the RET S409Y variant. Of these, 6 presented with isolated MTC (mean age 50.2 years; range 41-75 years), of which 3 presented with neck lymph node metastases and 2 presented with distant liver or lung metastases. Among the remaining 9 carriers, 3 (mean age 56 years; range 41-76 years) had elevated serum calcium-stimulated calcitonin (sCtn) or concurrent marginally elevated serum calcitonin (Ctn) levels, whereas the other 6 (mean age 37.5 years; range 14-52 years) exhibited typical ...Continue Reading

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Methods Mentioned

BETA
dissection
flow cytometry
electrophoresis
transfection
exome sequencing

Software Mentioned

Polymorphism Phenotyping 2 ( PolyPhen - 2 )
VAAST Variant Prioritizer ( VVP
VVP
SIFT
Mendelian Clinically Applicable Pathogenicity ( M - CAP )
PolyPhen
CAP

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