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.
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 ...
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 ...
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 ...
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 ...
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 ...
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