How do you counsel a woman with a BRCA1 VUS with a high-risk personal history of breast cancer?
There is real harm to patients by ‘acting’ on the presence of VUS in BRCA1; the majority are reclassified as benign. For those who have access to genetics resources, it is very helpful to discuss these results with certified genetics counselors, and formal post-test counseling for patients is recomm...
I consider a VUS a 'variant of unknown significance' that may be re-classified at some point in the future, and is more likely to be re-classified as benign than pathogenic, so I seldom make clinical recommendations based on that finding, but I would not ignore it altogether. If by a 'high-risk pers...
With the expanding use of germline testing, this question is becoming more relevant. While I generally agree with Dr. @Dr. First Last's approach, I would like to add a few things.
There are multiple commercial labs (Ambry, Myriad, Invitae, GeneDx, etc) that offer germline testing, but most of them r...
I greatly appreciate the additional comments and clarifications from Drs. @Dr. First Last and @Dr. First Last, and the references provided. I completely agree with utilizing whatever expertise is available - whether locally or at a regional cancer center or thru the testing company - to help clinici...