When evaluating whether the known breast cancer susceptibility loci identified through population based studies also modify breast cancer risk in mutation carriers, a significance threshold ofP<0.05 was used because of the strong prior evidence of association for these loci with disease risk. For the a...
Cases were defined as participants having any of the ICD-9 or ICD-10 codes for personal history of HBOC-related cancers (Additional file1: Table S1). Controls were defined as individuals without any of these ICD-9 or ICD-10 codes. We tested for association with variant-positive compared wit...
However, when genetic analysis reveals a variant of uncertain significance (VUS) in the BRCA2 gene, precision medicine-based decisions become complex. VUS are genetic changes with unknown pathological impact. Current statistics indicate that between 10–20% of BRCA sequencing results are VUS, and...