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Article

Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype.

American journal of human genetics - 6 Jun 2024

DeBoy Emily A, Nicosia Anna M, Liyanarachchi Sandya, Iyer Sheila S, Shah Manisha H, Ringel Matthew D, Brock Pamela, Armanios Mary

Abstract excerpt

Papillary thyroid cancer (PTC) is the most common endocrine malignancy. 10% to 15% of individuals show familial clustering with three or more affected members, but the factors underlying this risk are unknown. In a group of recently studied individuals with POT1 pathogenic variants and ultra-long telomere length, PTC was the second most common solid tumor. We tested whether variants in POT1 and four other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38688277
DOI: 10.1016/j.ajhg.2024.04.006
PMCID: PMC11179366

Genes

POT1
ACD
BRAF
TERT
TINF2

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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