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Feb 2, 2022 11:10PM
Feb 2, 2022 11:19PM
kam, yes, you already had cancer. With what you knew at the time of your diagnosis, maybe the NBN mutation caused that, or maybe it didn't. You had to treat that cancer, but the decision to have a BMX wasn't related to the cancer you already had (as you said, a lumpectomy would have sufficed), but was based on your risk level to develop a second breast cancer. The contralateral mastectomy was a prophylactic risk reducing surgery. What the guidelines say is that based on the NBN mutation alone (back when it was thought to increase risk by 30%), there was insufficient evidence to recommend risk-reduction surgery, which is what your BMX was. Of course there are many other reasons to have a BMX; just having the diagnosis of breast cancer, and the associated higher future risk, is one reason. So I am not at all questioning your decision but am explaining how this would be looked at if you were to pursue a lawsuit. Unless the genetic counsellor or the lab clearly and directly told you to have a BMX because of this mutation alone, your decision to have the BMX will considered to be personal choice based on a variety of factors.
What did your genetic counsellor tell you about this gene and the relative breast cancer risk? What did he or she recommend? My counsellor clearly told me that the data on genetic mutations changes all the time, and when I tested negative, she encouraged me to come back again in 5 years to be tested again. The information changes all the time for all genes; it's not that further research was being done specifically on the NBN gene, it's that research is being done constantly on all genetic mutations. This is a very new area of science.
And yes, this does happen with BRCA genes. I read an article a few months ago about a large family of women who all thought that they were BRCA positive, and many had PBMX surgeries, but the particular mutation that runs in that family was reclassified as being negative. Similarly, last month I read that Chris Evert was diagnosed with ovarian cancer. The cancer was found when she was having what she thought was prophylactic surgery to remove her ovaries and fallopian tubes. Her sister had died from ovarian cancer a number of years ago and at the time of her diagnosis, had tested negative for all known BRCA mutations, although she did have a BRCA mutation that was thought to not be cancer causing. It turns out that 5 years later, this mutation was reclassified as being BRCA+. That prompted Chris to have BRCA testing and she found that she carries the same gene. She therefore decided to have the prophylactic surgery (which turned out not to be prophylactic).
It's awful to be surprised by something like this, but it's an evolving area of science where things really do change every day.
Edited to add: Just to clarify an earlier point, for all of us, having been diagnosed with breast cancer before, our risk to be diagnosed again is approximately double the risk of someone who has never had breast cancer before. Double the risk is a 100% increase - much more than the risk increase that had been associated with the NBN gene. So if the 30% risk increase drove you to have the BMX, you should be glad about that, knowing that your risk was in fact higher than you thought.