Breast Cancer Survivor Steps Into Unknown Territory


Breast cancer survivor shares her journey after testing positive for a newly discovered genetic mutation (PALB2) related to breast cancer.

I am writing today with unhappy news. I just found out that I tested positive for the breast cancer DNA abnormality called PALB2. It is pretty new. There is just starting to be information on the internet about it. All other genes in my panel (genetic blood test) were fine. Apparently, there also may be a correlation between this gene and other cancers like pancreatic cancer. I have daughters and sadly, all this impacts them as well.

It appears that less than 1 percent of breast cancer patients/families may have this genetic abnormality, but those who have it in their genetic makeup may have roughly a 50 percent chance of having breast cancer at some point in their lives. It varies by age bracket. The odds change over your lifetime. The geneticist said PALB2 very probably explained why I had breast cancer at such a young age (46).

Having the PALB2 mutation puts my remaining healthy breast at risk. She said her treatment recommendations for me include discussing it with my oncologist, considering surgery — a prophylactic double mastectomy, and to alternate breast mammograms with breast MRI’s every six months for more frequent surveillance. I don’t know yet if there are hormone suppressing medication possibilities.

I will talk to my breast cancer oncologist and I will continue to ponder and learn at this point. I already met with my breast surgeon who thought the odds were a little better (less) for me at this point than 50 percent. She emphasized that each of us has a unique number — the odds that we personally decide we can live with when it comes to deciding whether or not to have a prophylactic double mastectomy. What’s my number? I don’t know yet.

For my children, it means they may choose to have the genetic panel test done and because of family history (Mom, me, and for them possibly the other side of the family), start mammograms even earlier than 10 years before my breast cancer diagnosis — starting instead at age 30. The geneticist said I should alert any family I can find so that they are aware of their risks and options, and I have reached out to them with this unhappy news.

I feel sad about all of this and I will get through it just fine. I am missing Mom a lot and if I could, I would wish myself a sister for Christmas though I am very blessed and grateful every day for my wonderful family and friends. My writing is an important way to share knowledge and knowledge is power and healthy decision-making. My writing here for tries to help others make positive and healthy life choices.

After breast cancer and then an unrelated melanoma on the opposite side of my body, I can’t pretend this is my first dance with cancer. As I wait for my breast MRI test and results, no new breast cancer has been found in my body. I remind myself of that and repeat it to myself. What has happened is simply an increased knowledge of the odds I am facing — actually the same odds I unknowingly have faced for the last seven years. I will be positive and sad and proactive in sorting out this situation, and as genetic testing and research continues, I know I will not be making this journey alone.

Related Videos
Image of a woman with black hair.
Image of a woman with brown shoulder-length hair in front of a gray background that says CURE.
Sue Friedman in an interview with CURE
Catrina Crutcher in an interview with CURE