4 papers6 findings
Germline pathogenic variants in telomere-related genes
upin humans1
germline pathogenic variants in telomere-related genes induce telomere biology disorders in humans.
“The presence of germline pathogenic variants (GPVs) in genes involved in telomere length regulation or protection has been demonstrated to be a causative factor for telomere biology disorders (TBDs).”
Review
Genetic aspects of telomere biology disorders
Seminars in hematology1 Dec 2025
PARN
mixedin humans1
PARN is associated with telomere biology disorders in humans.
“The clinical-genetic correlation in this case supported a diagnosis of a telomere biology disorder (TBD).”
HumansMonoallelic PARN c.613T>C; p.Cys205Arg variant classified as a Variant of Uncertain Significance; diagnosis supported by clinical-genetic correlationfemales
BMJ case reports1 Feb 2026
Somatic variant profile
mixedin humans1
Telomere biology disorders are associated with somatic variant profile in humans.
“with a distinct profile of somatic variants compared to the general population.”
ReviewCompared with the general population
Clonal hematopoiesis in telomere biology disorders
Seminars in hematology1 Dec 2025
Clonal hematopoiesis of indeterminate potential
upin humans1
Telomere biology disorders are associated with clonal hematopoiesis of indeterminate potential in humans.
“several groups have identified higher rates and earlier onset of clonal hematopoiesis (CH) in TBDs patients”
ReviewPatients with telomere biology disorders
Clonal hematopoiesis in telomere biology disorders
Seminars in hematology1 Dec 2025
Head and neck squamous cell carcinoma
upin humans1
Telomere biology disorders raise the risk of head and neck squamous cell carcinoma in humans (43-fold increased risk versus the general population).
“Head/neck squamous cell carcinoma (HNSCC), the most common TBD-associated solid malignancy, is notable for a 43-fold increased risk in AD TBDs”
ReviewAutosomal dominant telomere biology disorders; compared with the general population
Solid malignancies in telomere biology disorders
Seminars in hematology1 Dec 2025
Cancer
upin humans1
Telomere biology disorders raise the risk of cancer in humans (Approximately 3-fold increased risk).
“TBDs are cancer predisposition syndromes with an approximately 3-fold increased risk of any cancer”
Review
Solid malignancies in telomere biology disorders
Seminars in hematology1 Dec 2025
Masonic Cancer Center, University of Minnesota
1 trialPhase 248 people
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
1 trialPhase 227 people
Blood DNA fragments indicated packaging units spaced 145 base pairs apart at chromosome ends, compared with about 170 base pairs across the genome.Blood DNA fragments indicated packaging units spaced 145 base pairs apart at chromosome ends, compared with about 170 base pairs across the genome.