Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …

Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal solid
malignancies with very few therapeutic options to treat advanced or metastatic disease. The …

Certain classes of genetic variation still escape detection in clinical sequencing analysis.
One such class is retroelement insertion, which has been reported as a cause of Mendelian …

Ataxia-telangiectasia or AT is a fatal progressive neurological disease of children. The
symptoms indicate disruptions in the development of such diverse body parts as cerebellum …

Introduction Ataxia-telangiectasia (AT) is a rare autosomal recessive syndrome
characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, variable …

Simple Summary Ataxia telangiectasia mutated (ATM) protein plays a pivotal role in the DNA-
damage response through activation of many different molecular targets. Mutations of the …

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
disorder. A minority of AT patients can present late-onset atypical presentations due to …

Patients with ataxia-telangiectasia (AT) suffer from progressive cerebellar ataxia,
immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view …

Abstract Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic
variants of ataxia‐telangiectasia mutated (ATM). This disease is characterized by …

ATM is an apical kinase of the DNA damage response involved in the repair of DNA double-
strand breaks. Germline ATM variants (gATM) have been associated with an increased risk …