Somatic TERT

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Identification of somatic TERT promoter mutations in familial nonmedullary thyroid carcinomas

Familial nonmedullary thyroid carcinoma (FNMTC) accounts for nearly 5% of all thyroid carcinomas of follicular cell origin. The genes causing FNMTC identified to date are only involved in a small fraction of the families and, thus, the molecular basis of this disease remains mainly unknown.

The aim of this study was to investigate the role of TERT promoter and EIF1AX germline and somatic mutations in families with FNMTC.