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Watch the full interview with Dr. Avery here: https://outcomes4me.com/webinar/unlocking-precision-care-genetic-testing-for-breast-cancer-management/
*The transcript below has been edited for readability
I’m going to wrap up the the germline genetic questions. I’m going to combine two. The first part is have we discovered new genes beyond BRCA 1 and BRCA 2 that kind of everybody in the space is familiar with and then if so how often as survivors should we be being tested. So the specific question is if I was tested 10 years ago is there benefit for me asking for the test to be
repeated?
Yeah that is a really great, great question and I’ll tell you why. There are some patients who get diagnosed and their family history is off the charts or you know they’re really young. Something that you really have a high suspicion that you’re going to find something genetic or germline. It’s
like there got to be something right?
The point is that new genes are identified all the time. When I started Fellowship almost 20 years ago it was BRCA 1 and 2 right? To your point, now when we’re talking about genetic testing for hereditary cancer and breast cancer, it is a lot more than BRCA 1 and 2 now. It’s
BRCA 1, BRCA 2, CDH, P10. There’s one called STK 11 and palb 2. These were all genes that we weren’t testing for even when I started fellowship. I think about a lot of patients who we haven’t identified like when do you go back and test?
It’s always good to just kind of check in as a Survivor, “hey has there been enough in terms of new genes identified from when I was tested that I should consider testing again?” Also, as your family history changes sometimes you’re going along and then somebody else in your family gets a diagnosis. Your family history is now changed and so whenever there’s a change in your family history I think is another good touch point to bring up with your oncologist.
if anybody kind of falls into that strong family history but no identified germline mutation. I’ve come from a long history of premenopausal under 50 breast cancer and no germline mutations. There is a study going on at Fred Hutch Seattle Cancer Care Alliance so in patients like me if there’s anybody else out there you can donate. It’s just a blood sample and there they have a bank that there doing research on to hopefully maybe identify new genes in the future. There’s that question again of clinical trials or research or you can participate in and I think it only opens your opportunities.