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Article

Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2023

Herrera-Mullar Jennifer, Fulk Kelly, Brannan Terra, Yussuf Amal, Polfus Linda, Richardson Marcy E, Horton Carolyn

Abstract excerpt

PURPOSE: Germline variants in POT1 have been implicated in predisposition to melanoma, sarcoma, and glioma in limited studies. Here, we determine the prevalence of cancer types in individuals with POT1 pathogenic variants (PVs) undergoing multigene panel testing (MGPT) for a broad variety of cancer indications. METHODS: We performed a retrospective review of data provided on clinical documents from individuals...

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Identifiers

PMID: 37466057
DOI: 10.1016/j.gim.2023.100937

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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