Feb 22, 2017 11:03PM - edited Feb 22, 2017 11:04PM by mustlovepoodles
Yes. I actually went about it backwards. I was diagnosed with BC in Jul 2015. I have strong family history of breast (including male BC), colon, and other cancers, so my genetics counselor suggested to a quick 5-gene panel which included the BRCA genes, and then doing a 32-gene panel that covers the more obscure genes, many of which cause breast, colon, and other cancers found in my family. When the 5-gene panel came back negative, we proceeded with a lumpectomy. About 2 weeks later the larger panel revealed the PALB2 and Chek2 mutations, both of which cause BC. Unfortunately, by that time my pathology had changed from ER+PR+ to ER+PR-, a more aggressve cancer. As a result my treatment plan went from minor surgery (LX) plus radiation to LX, plus CHEMO and no radiation.
About 5 weeks after my final chemo, I had prophylactic bilateral mastectomy. As my BS said, the LX took care of the tumor, so the BMX wasn't to treat cancer. I think if I had waited just a little longer after chemo that I would have had an easier go of it. As it was I had a lot of complications and it took 16 weeks to heal. Perhaps the chemo impeded healing. But the BMX itself wasn't difficult or terribly painful. I didn't have reconstruction, so I can't comment on that. The drains were a pain in the butt and I felt a LOT better once they were out.
My only regret is that I didn't know about these gene mutations 4 years ago. I could have started an AI. I could have had preventative surgeries and maybe avoided BC and chemo. My 23yo DD decided to get tested and she is also PALB2 and Chek2 positive. She was devastated, as was I. But like I told her, at least she will have the advantage of close breast surveillance, with the option of starting hormone suppression early and preventative surgeries around age 35. I hope it's enough. There are 3 women in my family who had pre-menopausal BC, including one aunt who was only 24.
One bright spot for me is that knowing that I have these gene mutations, my doctors can be vigilant with things like colonoscopies, thyroid and pancreas evaluations, skin cancer surveillance, and others.