Breast cancer risk models represent the likelihood of developing breast cancer based on
risk factors. They enable personalized interventions to improve screening programs …

Studies continue to uncover contributing risk factors for breast cancer (BC) development
including genetic variants. Advances in machine learning and big data generated from …

We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance
(VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …

Massively parallel sequencing helps create new knowledge on genes, variants and their
association with disease phenotype. This important technological advancement …

Simple Summary Hereditary diffuse gastric cancer (HDGC) is an inherited cancer syndrome
associated with CDH1 germline mutations. The increasing detection of CDH1 genetic …

Simple Summary Pediatric malignancies rarely occur, with 12,000–15,000 cases per year in
the United States. Approximately 10% of pediatric cancers are thought to be secondary to …

Implementation of next-generation sequencing (NGS) for the genetic analysis of hereditary
diseases has resulted in a vast number of genetic variants identified daily, leading to …

Congenital hearing loss has an impact on almost every facet of life. In more than 50% of
cases, a genetic cause can be identified. Currently, extensive genetic testing is available …

Pediatric sudden cardiac death (SCD) is the sudden unexpected death of a child or
adolescent due to a presumed cardiac etiology. Heritable causes of pediatric SCD are …