Identification of somatic TERT promoter mutations in familial nonmedullary thyroid carcinomas.

Inês J MarquesMargarida M MouraRafael CabreraAntónio E PintoJoana Simões-PereiraCatarina SantosFrancisco D MenezesDiana MontezumaRui HenriqueManuel Rodrigues TeixeiraValeriano LeiteBranca Maria Cavaco

Published in: Clinical endocrinology (2017)

The results of this study suggest that TERT promoter and EIF1AX mutations are not frequently involved in FNMTC aetiology. However, we show for the first time that TERT alterations are associated with familial thyroid tumour progression. Our data also suggest that TERT mutations are more often found in concomitance with BRAF mutations in advanced stages of FNMTC.

Keyphrases

dna methylation
gene expression
transcription factor
early onset
electronic health record
high grade
genome wide
data analysis