Pathogenic genetic variants (formerly called mutations) present in the germline of some
individuals are associated with a clinically relevant increased risk of develo** lung cancer …

Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

Background Genetic testing for breast cancer susceptibility is widely used, but for many
genes, evidence of an association with breast cancer is weak, underlying risk estimates are …

Predictive biomarkers of response are essential to effectively guide targeted cancer
treatment. Ataxia telangiectasia and Rad3-related kinase inhibitors (ATRi) have been shown …

Importance Rare germline genetic variants in several genes are associated with increased
breast cancer (BC) risk, but their precise contributions to different disease subtypes are …

Homologous recombination (HR) is a highly conserved DNA repair mechanism that protects
cells from exogenous and endogenous DNA damage. Breast cancer 1 (BRCA1) and breast …

Background Radiation therapy is one of the most commonly used cancer therapeutics but
genetic determinants of clinical benefit are poorly characterized. Pathogenic germline …

Abstract Purpose Ataxia–Telangiectasia Mutated (ATM) has been implicated in the risk of
several cancers, but establishing a causal relationship is often challenging. Although ATM …

In the recent years the rapid scientific innovation in the evaluation of the individual's genome
have allowed the identification of variants associated with the onset, treatment and …

Panel sequencing of susceptibility genes for hereditary breast and ovarian cancer (HBOC)
syndrome has uncovered numerous germline variants; however, their pathogenic relevance …