Language

English

Publication Date

1-1-2025

Journal

British Journal of Haematology

DOI

10.1111/bjh.19851

PMID

39462986

PMCID

PMC11739769

PubMedCentral® Posted Date

10-27-2024

PubMedCentral® Full Text Version

Post-print

Abstract

Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life-threatening conditions, including bone marrow failure, liver and lung disease, cancer and other complications caused by GPVs in telomere maintenance genes that result in short and/or dysfunctional telomeres and reduced cellular replicative capacity. In contrast, cancer predisposition with long telomeres (CPLT) is a disorder associated with elevated risk of a variety of cancers, primarily melanoma, thyroid cancer, sarcoma, glioma and lymphoproliferative neoplasms caused by GPVs in shelterin complex genes that lead to excessive telomere elongation and increased cellular replicative capacity. While telomeres are at the root of both disorders, the term TBD is used to convey the clinical phenotypes driven by critically short or otherwise dysfunctional telomeres and their biological consequences.

Keywords

Humans, Telomere, Neoplasms, Genetic Predisposition to Disease, Telomere Homeostasis, Phenotype, Germ-Line Mutation, cancer, genetics, telomere

Published Open-Access

yes

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