Not BRCA 1 or 2 but considering double Mx..need advice

There are other genetic syndromes that do raise your risk for breast cancer. Besides BRCA, they checked me for CHEK2 & PTEN mutations. Lynch Syndrome & L Fraumenii syndromes. Colon cancer runs in my family.

Alicia-Rae - you were diagnosed with stage IIIb, triple negative breast cancer at 23 and people think a BMX is unreasonable? Even without further genetic testing, if you feel it will give you peace of mind going forward (knowing that even the drastic surgery will not eliminate the risk of a local recurrence or new primary), I would think that it's your decision - and no one else's - to make.



Did you have the full BRCA sequencing including BART? I ask because BART isn't always included. Also, if you have any Ashkenazi heritage, they might've only tested you for the three founder mutations. While those three account for 90%+ of mutations in that population, there are exceptions.



I assume you've already spoken with a genetic counselor about your family history - did he/she suggest testing any other genes? Weety mentioned PALB, but there are several other known genes that have been implicated with breast cancer (TP53, PTEN, possibly the Lynch Syndrome genes, etc). After I tested negative for BRCA, we moved on to the Broca panel out of the University of Washington to test 40 other genes. I didn't have any mutations found so I will continue to research new discoveries and potentially ask for more testing as it becomes available. My GC said that the understanding of cancer genetics is still in its infancy and she's confident that a lot more will be known in the next few years. As a side note for anyone else who might be looking for information about genetic testing, after the Supreme Court struck down Myriad's BRCA patents, the Broca panel also includes full sequencing of BRCA 1 and 2 (with BART included) and I think it costs less than Myriad's BRCA-only test.

I am getting a prophylactic done on my left next week and I am brca negative, also getting immediate reconstruction and also have a 16 month old...  my doctors haven't discouraged me at all and no one has tried to convince me I'm doing the wrong thing.  I have been sure about my decision... I just don't need 1 real breast to worry me ever again... for me, it was an easy decision and then you don't have to worry about lymph node dissection and such either...

My breast surgeon strongly encouraged a lumpectomy as she felt that with my small, lazy, hormonally-driven tumor, a conservative surgical approach would be best. I told her from the beginning that I wanted a BMX but I agreed to the lumpectomy, knowing that I could have more surgery in the future. The pathology showed multiple areas of LCIS as well as an additional tiny invasive tumor in another quadrant of the breast. Radiation would've taken care of those other areas in theory, but it sealed the deal for me to move on to a BMX and later I had a total hysterectomy/oophrectomy - all knowing I was BRCA negative. Did I overreact/over treat/act out of fear? Maybe. But with multiple primary cancers both of which presented abnormally young, I showed two signs of a genetic predisposition to cancer - even if current medical knowledge can't identify the responsible gene/s yet.



I removed my breasts, uterus, cervix, tubes and ovaries but I won't be asking them to take my colon (prophylactic total colectomy is sometimes done by people with Lynch Syndrome). Why not? Aside from the very real fact that I still use my colon every day in a way that I don't use the others as I'm done having children, that's not the reason. I can go in for regular colonoscopies and have a great chance of catching a polyp before it becomes an invasive cancer. The polyp is removed and barring complications, my colon would continue on its merry digestive way. What's the screening protocol for ovarian cancer? There isn't one. Mammograms didn't show my palpable invasive tumor. Would an annual mri? Maybe but then I'd be looking at surgical biopsies every time they saw an abnormality as I simply would not be a candidate for watchful waiting.



The BMX with TE placement was painful, and the months of fills long and uncomfortable, but for me it was the right choice. One year out from diagnosis I am still adjusting to my new body, but I'm overall happy with the way I look and that makes it a bit easier to say that I wouldn't change a thing. One suggestion for you might be to talk about this decision with a geneticist or genetic counselor rather than your surgeon. I can't tell you how many MD's have made comments like "if you're BRCA negative, you have nothing to worry about" as if that's the only possible cause. Good luck to you!

Alicia,

I am getting upset on your behalf. I am still completely baffled by how someone with your dx would be denied a bmx. It is not prophylactic as you have already been diagnosed with node positive, triple negative bc. Why, why why?

Rozem,

Thank you for explaining that. In the US, reconstruction is a legal right that women have after mastectomy. Yes, plastic surgery is big business but reconstruction after disease is a very different thing. I guess I am just surprised that actually getting a bmx is so difficult for someone who does not have early stage bc.

Caryn

Alicia, I am so sorry you are going thru this. You would think that it would have been cheaper to do the bmx instead of paying for all the tests and biopsies. I hope that you have already got on the waiting list. I hope to hear that you have a surgery date soon. I had a bmx and radiation on my right breast. I have several issues with pain and 1 with cellulitis but I dont regret my decision. I also didnt understand that I could still get a recurrence even after a bmx. Good luck