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Article

A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma.

Cancer genetics - 1 Apr 2025

Gilene Stephen, Knapke Sara, Leino Daniel, Roy Somak, Raskin Scott

Abstract excerpt

INTRODUCTION: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2]. Proposed mechanisms for oncogenesis with POT1 loss of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39864275
DOI: 10.1016/j.cancergen.2025.01.004

Genes

POT1

Provenance

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