After surviving breast cancer, still another genetic test ...
I’m cancer free and BRCA negative – but now there is PALB2, and I took the plunge
By Mary K. Craige Posted on 27 October 2014
After delivering the news that I had invasive ductal carcinoma and explaining my pathology report to me, my breast surgeon followed up with the question, "Do you want to know if you have the mutation that causes breast cancer?"
Shocked and overwhelmed, I said "yes."
Within five minutes, the nurse was in the exam room, swabbing my cheek and telling me that they would have results in three to four weeks. I remember my surgeon saying, "The results will impact your treatment and surgical decisions."
I left the office in tears, unsure what was ahead and in complete shock that I had breast cancer.
I was just 34 when I was diagnosed, and I immediately wanted to know why I had developed this disease at such a young age. My personality is one that always wants to understand the "why" things happen. My mother had been diagnosed with breast cancer in 1987 age 51, so I always knew there was a chance that I would one day deal with a similar diagnosis. I never thought I would be diagnosed with the disease in my early 30s.
What I didn't understand at the time was that I was being tested for mutations in the BRCA1 and BRCA2 genes, which are associated with breast and ovarian cancers. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers, according to the National Cancer Institute. Recently, BRCA has become associated with celebrities like Angelina Jolie and the movement toward prophylactic mastectomy for women who carry one of these mutations.
When my results came back, the test showed that I was BRCA1 and BRCA2 negative.
A "family tree" of cancer
When I met with my medical oncologist to discuss treatment options, one of the first things we discussed was my family history of cancer. Although I was BRCA negative, my medical oncologist still asked me to complete a family pedigree. For a cancer patient, that is a "family tree" of cancer. After completing this exercise, what I found was surprising.
Over three generations, there was a lot of cancer in my family: breast, lung, colon and stomach. Many of these cancers were found at young ages and were diagnosed in the later stages. When my medical oncologist viewed my family history, she pushed for a full genetic panel. At the time, my medical insurance only covered a small portion of the test. This would be another cost my husband and I had to absorb. We already knew that our out of pocket expenses to fight this disease would be high, even with decent insurance coverage.
The more I thought about it, the more I did not want to know what else was "wrong" with me. At the time, I was overwhelmed with information and decisions. Other testing, called an OncotypeDX test, showed that I needed to undergo chemotherapy to give me the best chances of survival at the five-year mark. Genetics were no longer on my radar. Getting through the next eight months of chemotherapy and radiation was my focus.
Moving on by facing the facts
In January 2011, I was told I was cancer-free.
In early 2014, almost four years after I was diagnosed with breast cancer, I gave birth to my second son, Gavin. While my focus after treatment had been to be healthy enough to have another baby, that focus soon changed to long term survivorship for my family. Around this same time, the media began reporting on "new" mutations in a gene called PALB2, which stands for partner and localizer of BRCA2, the gene I was tested for 2010. While PALB2 was not really "new," it was recently identified as a susceptibility gene for familial pancreatic cancer.
During my biannual visit with my oncologist in July, she again expressed her desire to fully understand my genetic background and to have me tested for PALB2 and other mutations linked with colon and other cancers. I agreed to undergo this additional testing.
In August, I met with a genetics counselor and talked through each one of the cancers I knew of in my family. We looked at the ages when family members had passed away and discussed what, if any, potential new information could be gathered from these additional tests. We also discussed the possibility of increased screening tests should a mutation be found and what the future would look like for me, as well as my two boys.
The PALB2 tests are in
It has been two months since two vials of blood were drawn and shipped off to a lab in California. Unfortunately, I still do not have the results. But what I do have is peace of mind in knowing that I am doing as much as I can to ensure that I will be here for many more years. If I find out that I carry a genetic mutation that predisposes me to a certain type of cancer, then I will ensure that the proper screening is done each year and that I am vigilant in reporting any changes to my medical oncologist. For example, should these genetic tests show that I have a predisposition for colon cancer, I would begin screening earlier than 50 – the age recommended by the American Cancer Society for people of average risk.
Medical science learns more and more each day about breast cancer. Unfortunately, we still don't have a cure. But what we do have is information to help us make the best decisions about treatment. Genetics is one piece of that information. Hopefully, this additional data will reassure me that I will continue to survive and thrive for many years to come.
Mary Craige will reveal the results of her PALB2 test – and what they mean for her life – in a follow-up story. [divider]
Mary Craige's previous Elsevier Connect stories
Elsevier Connect Contributor
Mary K. Craige is a content marketing manager for LexisNexis Risk Solutions. In this role, she manages strategic content marketing execution across all levels of planning, production, distribution, socializing, and performance measurement for the Health Care and Government business units.