Does bRCA1 R1699Q variant displaying ambiguous functional abrogation confer intermediate breast and ovarian cancer risk?
Our results provide substantial evidence that the BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) variant, demonstrating ambiguous functional deficiency across multiple assays, is associated with intermediate risk of breast and ovarian cancer, highlighting challenges for risk modelling and clinical management of patients of this and other potential moderate-risk variants.
The consensus guidelines regarding PHPT have not been followed in our study population. PTx appears to be underutilized in both asymptomatic and symptomatic patients.