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Article

Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer.

Journal of medical genetics - 24 Sept 2024

Oriola Josep, Díez Orland, Mora Mireia, Halperin Irene, Martínez Sandra, Masas Miriam, Tenes Anna, Bernal Anna, Duran Rafael, Orois Aida

Abstract excerpt

BACKGROUND: It has long been observed that there are families in which non-medullary thyroid cancer (NMTC) occurs, but few syndromes and genes have been described to date. Proteins in the shelterin complex have been implied in cancer. Here, we have studied shelterin genes in families affected by NMTC (FNMTC). METHODS: We performed whole-exome sequencing (WES) in 10 affected individuals from four families with at...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39103207
DOI: 10.1136/jmg-2024-110185

Genes

TINF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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