Longitudinal cohort study of genotype and associated cancer risk in individuals with telomere biology disorders

Telomere biology disorders (TBDs) are inherited cancer-prone bone marrow failure syndromes with differenced in morbidity and mortality based on mode of inheritance. A longitudinal cohort study of TBDs assessed cancer occurences from 2002 through 2022. Participants were individuals with a TBD-associated pathogenic germline variant. This cohort study including 230 individuals with TBDs found a 3-fold increased risk of cancer in individuals with TBDs compared with the general population. Individuals with autosomal-recessive or C-linked TBDs had the highest risk of cancer, at approximately 19-fold in those without prior organ transplant. The authors conclude that these findings suggest that cancer screening in individuals with TBDs could be tailored by genotype.