1. In this study of White and African American adults who had unexplained sudden cardiac death, nearly 20% of individuals had pathogenic or likely pathogenic variants consistent with inherited cardiomyopathies or arrhythmia syndromes, despite having normal cardiac findings.
2. These findings suggest that genetic testing could play a greater role...
1. BRCA1 promoter methylation in normal white blood cells (WBCs) was linked to risk for high-grade serous ovarian cancer (HGSOC).
2. BRCA1 methylation was detected in women of all ages, including newborns, suggesting that BRCA1 methylation happens at an embryonic stage.
Evidence Rating Level: 3 (Average)
Study Rundown: Females with BRCA1 mutations...
1. Whole genome sequencing (WGS) in primary care reveals new genetic diseases.
2. Currently, the clinical utility of such findings and clinical actions to be taken is unclear in the primary setting.
Evidence Rating Level: 1 (Excellent)
Study Rundown: WGS, including exome and genome sequencing, is increasingly being used in healthcare for...
1. Mutations in the colony-stimulating factor 3 receptor (CSF3R) gene were found in a majority of samples of neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (CML).
2. Different types of CSF3R mutations are associated with vulnerability to different therapeutics in vitro and potentially in vivo.
Study Rundown: Aberrant kinases...