Population-based pathogenic variant testing identified breast cancer susceptibility gene carriers who would often be missed ...

Patients with Gaucher disease type 1 face high age-specific prevalence of Parkinson disease and possible parkinsonian syndrome by age 80 years.

Pathogenic variants were present in 0.5% (GMC) to 0.9% (UKBB), with MITF E318K accounting for most carriers and reaching 0.8% in UKBB. Enrichment exceeded a 2.5% testing threshold in high-risk ...

Using patient-derived cardiac tissue and stem cell-based models, the team of translational researchers demonstrated that targeting the genetic cause of disease improved cellular abnormalities and ...

Using patient-derived cardiac tissue and stem cell-based models, the team of translational researchers demonstrated that targeting the genetic cause of disease improved cellular abnormalities and ...

Population-based estimates of cumulative breast cancer risk for established pathogenic variants (PVs) vary by family history and potentially modifiable risk factors, according to a study published ...

The trial included 648 patients aged 30 to 80 years with early-stage Parkinson’s disease. Credit: R Photography Background / ...

Please provide your email address to receive an email when new articles are posted on . Prevalence of pathogenic variants in cancer-susceptibility genes appeared independent of personal or family ...

About The Study: This study identified 5.05% of individuals carrying pathogenic or likely pathogenic variants, suggesting a higher-than-expected prevalence of key cancer susceptibility genes in a ...