Approximately 5–10% of all breast cancer (BC) cases are caused by germline pathogenic
variants (GPVs) in various cancer predisposition genes (CPGs). The most common …

Cancer is one of the most widespread and severe diseases with a huge mortality rate. In
recent years, the second-leading mortality rate of any cancer globally has been breast …

Primary immunodeficiency (PID) disorders, also commonly referred to as inborn errors of
immunity, are a heterogenous group of human genetic diseases characterized by defects in …

Cancer predisposition syndromes are entities determined especially by germinal pathogenic
variants, with most of them autosomal dominantly inherited. The risk of a form of cancer is …

ATM germline pathogenic variants were recently found enriched in high-risk melanoma
patients. However, ATM loss of heterozygosity (LOH) has never been investigated in …

Prostate cancer (CaP) remains the second leading cause of cancer-related mortality in
American men. Systemic treatments for metastatic CaP, which causes the majority of deaths …

Simple Summary The inactivation of DNA damage response (DDR) pathways provides new
opportunities to target cancers. One of the key DDR kinases is ATM which is reported to be …

Simple Summary Mutation of the ataxia-telangiectasia mutated (atm) gene in humans and
mice renders them susceptible to tumors due to both its role as a DNA damage sensor …

Simple Summary Ataxia Telangiectasia (AT) and Nijmegen breakage syndrome (NBS) are
the most common DNA repair disorders (DNARDs), characterized by an exceedingly high …

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder
associated with early onset ataxia and oculomotor apraxia. The genetic determination of …