Liver Disease and Transplantation in Telomere Biology Disorders: An International Multicenter Cohort
Language
English
Publication Date
1-1-2025
Journal
British Journal of Haematology
PMID
10.1111/bjh.19851
PMCID
39462986
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
Published Open-Access
yes
Recommended Citation
Sharon A Savage and Alison A Bertuch, "Liver Disease and Transplantation in Telomere Biology Disorders: An International Multicenter Cohort" (2025). Faculty, Staff and Students Publications. 7974.
https://digitalcommons.library.tmc.edu/baylor_docs/7974