Genetic Testing

[jaykay]

Hi - I had genetic testing after my first diagnosis and was BRCA negative. Fast forward to 2018 and a suggestion that I get re-tested since the there were more mutations tested for than BRCA in the the "new" standard test.

I was positive for chek2, which helped to explain my recurrence 12 years later and also gave me something else to worry about ;-).

I can't speak to triple positive since I'm ER+, Her2+. My mother had DCIS way back and had no genetic testing.

Janis

[Tracildouglas]

Thanks so much for your reply JayKay! So happy to hear that your recurrence was caught early and you were treated effectively! My min had a lumpectomy. I had a double mastectomy and was actually scheduled for a prophylactic surgery when they found the breast cancer (6mm in my right breast). I did Taxol and Herceptin. Have been on Tamoxifen since 2013. I did genetic testing in 2013 and again in 2018 too. Same panel. Not positive fir Chek2 but a variant of uncertain significance was found. I have a 9 year old daughter. I plan to get super early surveillance and monitoring for her whether or not a genetic mutation is ever found/exists!

[Becky]

I am over 16 years out but got genetic testing early on. I was brca 1&2 negative. However, the years passed and they found more genes that were linked to breast and ovarian cancer. They are not linked as strongly as the brca genes. So, I got retested for 21 genes and I have a variant of unknown relevance on RAD 51D. So, they don't think it causes cancer but in time, they might find that it does. When I investigated this, known variants are strong for ovarian rather than breast. Oddly, my paternal grandmother died from ovarian cancer. I had my ovaries removed many years ago. My mother and sister both had bc as well and I made them get this full testing. They were negative all around and did not have this variant. So, maybe in 10 years I get a call this variant is something but I was told it isn't a significant gene as well. We'll see