In addi- tion, the Optum EHR database, is general (i.e. not oncol- ogy center specific), which allowed us to include a wider variety of treating physicians. Inclusion criteria Female patients with BC ICD9/10 diagnosis (ICD-9 code 174.xx or ICD-10 codes C50.01, C50.11, C50.21, C...
Sequence variants were annotated with the Variant Effect Predictor (VEP; Genbank gene definitions;BRCA1NM_007294.3,BRCA2NM_000059.3). In order to reduce the set of false positive predicted loss-of-function (pLOF) calls, we also ran the Loss-Of-Function Transcript Effect Estimator (LOFTEE) and...
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...