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

CF carrier screening shows reduced accuracy in non-European groups. Learn how CFTR variant panels affect equity and find out ...

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 ...

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

Microsatellite Peak Shifts in Polymerase Chain Reaction-Based Fragment Length Data Correlate With Microsatellite Instability Degree and Vary With Mismatch Repair Gene Defects and Tumor Size This was a ...

This is part one of a two-part article offering proposals to improve the FDA’s guidance to implement a new approval framework ...

Leveraging high variant allele frequencies (VAF) of DNA damage repair (DDR) mutations (muts) in liquid biopsy (LBx) as a surrogate for germline testing: Implications for precision medicine. Estimated ...

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 ...

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 ...