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Article

The wide spectrum of POT1 gene variants correlates with multiple cancer types.

European journal of human genetics : EJHG - 1 Nov 2017

Calvete Oriol, Garcia-Pavia Pablo, Domínguez Fernando, Bougeard Gaelle, Kunze Kristin, Braeuninger Andreas, Teule Alex, Lasa Adriana, Ramón Y Cajal Teresa, Llort Gemma, Fernández Victoria, Lázaro Conxi, Urioste Miguel, Benitez Javier

Abstract excerpt

The POT1 protein binds and protects telomeres. Germline variants in the POT1 gene have recently been shown to be associated with risk of developing tumors in different tissues such as familial chronic lymphocytic leukemia, colorectal, glioma and melanoma tumors. Recently, we uncovered a variant in the POT1 gene (p.R117C) as causative of familial cardiac angiosarcomas (CAS) in Li-Fraumeni-like (LFL) syndrome...

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Source

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Identifiers

PMID: 28853721
DOI: 10.1038/ejhg.2017.134
PMCID: PMC5643968

Genes

POT1
TPP1

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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