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Article

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

Clinical endocrinology - 1 Oct 2017

Marques Inês J, Moura Margarida M, Cabrera Rafael, Pinto António E, Simões-Pereira Joana, Santos Catarina, Menezes Francisco D, Montezuma Diana, Henrique Rui, Rodrigues Teixeira Manuel, Leite Valeriano, Cavaco Branca M

Abstract excerpt

OBJECTIVE: 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. DESIGN: The promoter...

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Share to Carcinoma, Papillary
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to Promoter Regions, Genetic

Share to Proto-Oncogene Proteins B-raf

Share to Telomerase

Share to Thyroid Cancer, Papillary

Share to Thyroid Neoplasms

Source

Identifiers

PMID: 28502101
DOI: 10.1111/cen.13375

Genes

TERT
BRAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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