Last September in my gynecologist’s office, a conversation went sort of like this:
Her: Did you do the BRCA testing?
Me: Yes, it was negative.
Me: Why? I still got cancer!
Her: Yes, but it is good to have all the information.
It is true; I dutifully did the BRCA test as soon as I started treatment, at the urging of practically everyone I came into contact with in those first confusing weeks after diagnoses. With such strong family history (my aunt, my maternal grandmother, her sister, other assorted relatives, all had breast cancer), I was SURE I would get a positive result. I reasoned that with these positive results, the discussion could then proceed to having prophylactic bilateral mastectomy, as well as an oophorectomy, regardless of how my chemotherapy worked in the effort to shrink a tumor. (An explanation-my tumor was large and my breast small, chemo had been strongly suggested as the first piece of treatment, otherwise, surgery would have been difficult in terms of having to remove so much skin and tissue.) I wanted to get all my strategizing done; I wanted the results before I had to plan surgery, so I would know what I was facing, the most effective way of scheduling the surgeries, etc.
Incredibly the results were negative. I remember the testing coordinator saying that some women are relieved for a positive result, because then they “knew” and the “decision” was easier. With my negative, I could still do the bilateral mastectomy if I wanted, it just wasn’t as urgent, but you know, I could do it for prophylactic reasons. I did not think that way at all; I was glad it was negative, and I ultimately went with a lumpectomy, because I responded to chemo so well that my tumor was undefinable by the time I reached the surgery phase of my treatment plan.
I forgot about the BRCA testing, or shoved it to the back of my mind as I finished all the rest of treatment, and did not really think about it again until the conversation happened with my gynecologist. That conversation about the testing really bugged me. I do not have children and will not have them, so even if I had the mutation, I would not pass it on (I’m an only child), so why did I do it? Then last week, I read Five Lessons I Didn’t Learn from Breast Cancer (and One Big One I Did) by Shelley Lewis, who has graciously allowed me to include this reference to her book for this post. Ms. Lewis includes a section raising some questions about the true number of women, specifically breast cancer patients, actually impacted by this mutation. Her book inspired me to do a little research on my own.
At first all I found were the usual things, that a woman with one of the mutations is anywhere from 40% to 70% more likely to get breast and/or ovarian cancer, get it earlier, get a recurrence, and more likely to not survive. However, according to the Komen website, in the U.S., only one in 400 to 800 people in the general population actually carry a BRCA mutation, AND they state quite plainly that like all gene mutations, it is rare. Then, on the National Cancer Institute website, I found this little nugget: “Although such cancer susceptibility genes are very important, highly penetrant germline mutations are estimated to account for only 5% to 10% of breast cancers overall.” Ooooookkkaaaayy, what about the other 90% of us? Well, the Cleveland Clinic states “(m)ost breast cancer is actually considered sporadic (occurring by chance). BRCA gene mutations are actually responsible for an extremely small number of breast cancer cases. So the chance to have a BRCA mutation is low, but when there is a mutation, the chance to develop certain cancers is high. Other causes of breast cancer include lifestyle and environment. Most breast cancer patients will never know the true cause of their disease,” (emphasis mine). Once again, the question of how the hell did I get cancer goes unanswered (not that I really expect one).
Along with these interesting tidbits, I learned from the National Cancer Institute that the mutation is responsible for disease in 45% of families with multiple instances of breast cancer, such as my family, so I guess we fall into that 55%? Furthermore, it is possible my test results were a “false negative”, and there is no way to determine if it could be a true negative, or if it is some other gene mutation not detectable. Argh, I already got one false negative in my breast cancer case, please don’t let this be another!
So, this gene mutation seems to take up quite a bit of space in conversations about breast cancer, yet it only accounts for 10% as a cause? I find this odd, since it seems that most of what I find about breast cancer tends to cater to the larger percentages in the disease—the estrogen positive, the over 60 years old, etc., all those categories I don’t fall into (see my earlier complaint about that). What is with the push to get all patients to do the test? Is it to encourage more surgery? Oh right, it is to line the pockets of the company that does the test. And I know there is enough ill will from some breast cancer bloggers toward Myriad about the fact that this company is the only one that can do the test; I’m not even going to dip my toe into that issue.
I regret that I even bothered getting the test. I would not discourage anyone from getting it, but I don’t encourage it either.
4 thoughts on “How to Swindle a Breast Cancer Patient”
Thank you for sharing your research with us on this – those are numbers I was not aware of. I did have the test done and was negative, but can appreciate those who actually wanted it to be positive so as to make the treatment decisions easier (It was this thought that drove me to find a support group, bcz as supportive as my family is, and they Are – I thought Only someone else with cancer would think this thought was not crazy). One thing you didn’t mention was what I was led to believe – that those of Ashkenazi Jewish heritage (like me) have a higher change of having the BRCA mutation. I’m actually glad to know and I’m sorry you feel swindled (? – my interpretation of what you’re saying – could be right, could be wrong) by being convinced to have this test done (setting aside the monopoly on it Myriad currently has – that’s a discussion for another day, hm?).
But something you said in your post resonated with me. May I have your permission to quote you (properly attributed, of course) on my blog?
Quote me? Sure go ahead. And yes your are correct about Ashkenazi Jewish heritage…see my next post!
I was tested and got a negative result too despite being the fifth generation to get breast cancer in my family, all aged between 39 – 42! My consultant still thinks its genetic and has recommended prophylactic mastectomy of my remaining breast and oophorectomy. She says there are up to 50 genes responsible for breast cancer but at present the only ones they can really test for are BRCA1 & 2. Some other genes known to play a role include PTEN, TP53, MAP31K and CHEK2 and there appear to be chain reactions between them. I’m not a geneticist but my son is studying biomedical science and he’s been looking at breast cancer in applied genetics – it seems these genes if mutated cause quite a lot of trouble, not just breast cancer but some other cancers too. People with strong family histories may yet prove to be less sporadic and coincidental than some medics currently believe.
Hi Tracy—interesting you mention the other genes, because some other comments linked me to articles about the Miss America contestant, and apparently she has some other gene mutation, not BRCA (I was not concerned with the details of her story while I wrote, I confess, the mention I heard of her as I walked by the TV simply inspired me.) And now you say the BRCAs are the only ones that they can really test for? Geez…what the heck is going on? How did she get a test, and how much did it cost and is it really accurate? The more I learn the more questions I develop. Grrr, cancer the eternal question mark.