Genetic regulation of splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential.

The chromosome 5p15.33 region, which encodes telomerase reverse transcriptase (TERT), harbors multiple germline variants identified by genome-wide association studies (GWAS) as risk for some cancers but protective for others. We characterized a variable number tandem repeat within intron 6 (VNTR6-1, 38-bp repeat unit) and observed a strong association between VNTR6-1 alleles (Short: 24-27 repeats, Long: 40.

Advancements in microsurgery: A comprehensive systematic review of artificial intelligence applications.

Machine learning (ML) is a branch of artificial intelligence (AI) that enables computers to learn from data and discern patterns without direct instruction. This review explores cutting-edge developments in microsurgery through the lens of AI applications. By analyzing a wide range of studies, this paper highlights AI's transformative role in enhancing microsurgical techniques and decision-making processes.

Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.

Methods: We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (, , and ) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).

"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.

Background: Web-based information and social support are commonly used in rare disease communities where geographic dispersion and limited provider expertise complicate in-person support. We examined web-based resource use among caregivers of individuals with telomere biology disorders (TBDs), which are rare genetic conditions with long diagnostic odysseys and uncertain prognoses including multiorgan system cancer risk.

Objective: This study explored internet-based information-seeking and social support practices and perspectives of patients with TBDs and their caregivers.

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Importance: Telomere biology disorders (TBDs) are inherited cancer-prone bone marrow failure syndromes with differences in morbidity and mortality based on mode of inheritance.

Objective: To quantify cancer risks in TBDs by genetic subgroups.

Design, Setting, And Participants: This longitudinal cohort study of TBDs assessed cancer occurrences from 2002 through 2022.