Breast Cancer and Genetic Testing

With my sister’s recent diagnosis of breast cancer, I couldn’t help but think about the possibility that we might have a genetic mutation that may have been at the root of the matter. However, as my mother, and her side of the family, does not have a history of breast cancer, I was concerned that with a history of cancer on my father’s side of the family, that may have been a source of the cause. But, with no information about my father’s family history and no one from whom I could gather such information, I began to do some investigations on my own.

Obviously, each person’s decision about gene testing is a completely personal one. Based upon what we do know about the BRCA genes and mutations, testing for the mutation makes complete sense to me if one has a history of breast cancer. Barbara Jacoby

We have all heard about the BRAC1 and BRCA2 gene mutations that greatly increase the risk of breast cancer and ovarian cancer in those who carry one of these characteristics. Usually one will find that there is a maternal family history of breast cancer but the mutation can, in fact, exist on the paternal side of ones family as well. I was interested to learn more about the BRCA mutations that cause breast cancer so I found a BRCA 1 and BRCA 2 fact sheet that provided me with the basic information currently available about this topic. And while it did provide a lot of really good info, it didn’t even begin to answer the questions that I had. So as it was time for my annual visit with my oncologist, I took my questions to him.

It didn’t take long for him to rule out the BRCA gene as the likely source of our breast cancers. While my father had lung cancer (non-smoker) and my brother had metastatic renal cell carcinoma (kidney cancer), neither of these cancers is associated with the BRCA gene mutations. And there are other factors that we reviewed to expand the review of our history that satisfied my every question. But, I still did not know why both my sister and I had the same type of breast cancer and whether there was a source that would put my niece (her daughter) in a greater danger of also having breast cancer at some point.

My oncologist and I had a further discussion about the possibility of genetic testing and whether this might be something in which I would be interested. Based upon my results, we could share the information that I received with my sister and her oncologist for testing and comparison to determine whether there was a shared genetic problem that caused our cancers. With that information, they could then do testing on my niece to see whether she had inherited the same mutation and likely to develop breast cancer as well.

I shared the feedback with my sister since she is in the middle of her cancer treatment right now and thought that this would be the perfect time for her to have similar discussions with her oncologists. However, her decision was to not do the testing but if I went ahead with it, she would be more than glad to take my results and share them with her medical team at that time. What a decision to make! How does one decide such things? On top of all of this, my niece does not live in this country and I don’t know whether she would even be able to get the testing done if we found something that might be of importance.

While I have not made a final decision, I did read an article written by a woman who was pursuing her own testing journey because her mother and aunts had breast cancer. She found after testing that she did not have a BRCA gene mutation. But, her testing and the testing done on her father seemed to result in more questions than answers for her. Furthermore, in all of this testing, they did find a mutation in another gene that she has been told puts her at a moderate risk for colon cancer but no one in her family has ever had colon cancer!

Obviously, each person’s decision about gene testing is a completely personal one. Based upon what we do know about the BRCA genes and mutations, testing for the mutation makes complete sense to me if one has a history of breast cancer. I do understand that there is so much more information to be gathered in the world of genetic testing that may provide more answers regarding the possibility of treatments and/or the elimination of cancer. However, I am not sure that I am ready to be tested to determine whether my breast cancer was actually an inherited type that at this point seems highly unlikely. And I don’t think that I am inclined to go looking for more potential problems at this time rather than just appreciating my life as it is with no evidence of disease following the last test results from my annual follow up. Mostly, I support whatever any person chooses to do as each person will only be satisfied when they have the freedom to do what personally works for them.