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Article

UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants.

Journal of medical genetics - 20 Aug 2025

Tsoulaki Olga, Evans D Gareth, Sinha Khushboo, Rajan Neil, Bakr Farrah, Hatcher Helen, Napolitano Andrea, Finn Elena, Iyengar Sunil, Sohaib Aslam, Sadler Timothy J, Forde Claire, Woodward Emma Roisin, McVeigh Terri P, Tischkowitz Marc, Lalloo Fiona, Hanson Helen

Abstract excerpt

Constitutional or germline pathogenic variants (GPVs) in protection of telomeres 1 (POT1) are associated with a variety of tumours resulting in the recognition of POT1-tumour predisposition syndrome (POT1-TPDS). These tumours may include cutaneous melanoma, angiosarcoma, haematological malignancy and brain tumours. Due to the rarity of POT1 GPVs and limited available data, the overall lifetime cancer risks for...

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Source

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Identifiers

PMID: 40350252
DOI: 10.1136/jmg-2025-110638
PMCID: PMC12418547

Genes

POT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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