Research Article

Predicting Ovarian/Breast Cancer Pathogenic Risks of Human BRCA1 Gene Variants of Unknown Significance

Table 4

Overview of predictive results for 6321 BRCA1 VUS pathogenic risks.

ClassClinical significance (ClinVar database)Variant amountNumber of predictive pathogenic variants (%)Number of predictive benign variants (%)

1Likely benign937227 (24.22%)710 (75.78%)
2Likely pathogenic8225 (30.49%)57 (69.51%)
3Not provided2797621 (22.20%)2176 (77.80%)
4Uncertain significance2235644 (28.81%)1591 (71.19%)
5Conflicting interpretations of pathogenicity26474 (28.03%)190 (71.97%)
6Total63151591 (25.19%)4724 (74.81%)