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Article

POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.

European journal of human genetics : EJHG - 1 Aug 2024

Baptista Freitas Marta, Desmyter Laurence, Badoer Cindy, Smits Guillaume, Vandernoot Isabelle, T Kint de Roodenbeke Daphné

Abstract excerpt

Protection of Telomeres Protein 1 (POT1) protein is an essential subunit of the shelterin telomere binding complex, regulating telomere length. Some POT1 gene pathogenic variants (PV) lead to telomere elongation, genomic instability and higher risk of cancer. POT1 tumour predisposition syndrome (POT1-TPD) has autosomal dominant inheritance and unknown penetrance. It is associated with increased risk of cutaneous...

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Identifiers

PMID: 38839987
DOI: 10.1038/s41431-024-01611-0
PMCID: PMC11291874

Genes

POT1

Variants

Provenance

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POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program.PMID 38839987Read ↗

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