Identification of somatic TERT promoter mutations in familial nonmedullary thyroid carcinomas

Clinical Endocrinology
Inês J MarquesBranca Maria Cavaco

Abstract

The genes causing familial nonmedullary thyroid carcinoma (FNMTC) identified to date are only involved in a small fraction of the families. Recently, somatic mutations in TERT promoter region and in EIF1AX gene were reported in thyroid tumours of undefined familial status. The aim of this study was to investigate the role of TERT and EIF1AX mutations in familial thyroid tumours. The promoter region of TERT was sequenced in leucocyte DNA of the probands from 75 FNMTC families. In thyroid tumours from 54 familial cases, we assessed somatic TERT promoter, RAS and BRAF hotspot mutations, and the whole EIF1AX gene. No potentially pathogenic germline variants were identified in TERT in the 75 FNMTC families' probands. In the 54 carcinomas, we identified five cases (9%) with hotspot somatic TERT promoter mutations. BRAF mutations were found in 41% of the tumours. All TERT-positive samples were also positive for BRAF p.Val600Glu, and this co-occurrence was found to be statistically significant (P=.008). RAS mutations were detected in four tumours wild-type for TERT (7%). Evaluation of tumour mutation data together with the patients' clinicopathological features revealed a significant correlation between TERT plus BRAF mutations and adv...Continue Reading

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Citations

Nov 14, 2019·Genes·Berta Luzón-ToroSalud Borrego
Dec 23, 2020·Problemy e̊ndokrinologii·Vera A KachkoBoris M Shifman
Apr 29, 2021·Thyroid : Official Journal of the American Thyroid Association·Inês J MarquesBranca M Cavaco

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