Diagnosis

Good Genes

When I was first diagnosed with breast cancer, it somehow seemed inevitable. I have strong and vivid memories of my mother’s mother suffering with breast cancer for many years, and it ultimately took her life. On my dad’s side of the family, he and both of his siblings have all had some form of cancer.  Because of this history, I’d started mammograms at age 38.  In fact, way back when I was in my late 20s, Dr. Hugs actually sent me to see a general surgeon to have a manual breast exam due to some irregularities she could not identify. So with all this history, we sort of had a feeling that my knockers were gonna turn on me at some point.

The first thing I did when I received my diagnosis was create a family cancer tree (in Visio, of course!). I subsequently learned that they have software exactly for this purpose; apparently the genetics world uses standard symbols and codes to indicate various medical history information.  But when I started playing with this software it all sucked, so I decided I’d done enough and I’d leave the rest to the professionals.

Family-Medical-History
For any family members who would like a copy of this chart, I have a version with all the names and details filled in, so contact me.

I also started reading up on genetic causes of breast cancer. I’d heard a Fresh Air interview with the author of a book on the topic, and started reading A Cancer in the Family, by Theodora Ross.

I was quickly learning that it was actually unlikely that my cancer was caused by a genetic mutation.  First of all, despite the family history, no one else in my family had received their cancer diagnosis under the age of 50.  When there is a genetic mutation in the family, the likelihood of being diagnosed with cancer is much higher than in the general population, and inevitably this results in more diagnoses at a young age.

Secondly, my ethnicity is not associated with the known mutations. The French-Canadian branch is most interesting; any ethnic population that can be traced back to a relatively small founder population is often associated with certain mutations. Also, all three of my paternal grandmother’s children had had cancer at some point, which seemed like a red flag to me. That said, my wonderful Dad was able to dig up her death certificate overnight, and we confirmed that her cause of death, while complicated, did not seem to have anything to do with cancer. Additionally, the gene mutations that are known to increase your chances of getting breast cancer are not associated with people of French-Canadian descent.

Despite all this, my doctors did agree that there was enough suspicion to refer me for genetic testing anyway. I met with a genetic counselor and she gave me a quick lesson on genetics. The BRCA 1 & 2 gene mutations are the most well known (see Angelina Jolie’s NYT op-ed on the subject); only 5-10% of breast cancers are attributed to this, but those who have the mutation have FIVE TIMES the normal risk of breast cancer (according to the National Cancer Institute). There are other known mutations as well, but these are even less common.

Ultimately I was tested for mutations in the following genes: BRCA 1/2+, CDH1, CHEK2, PTEN, and TP53. I submitted a saliva test (if you do this, be sure to arrive at your appointment well-hydrated!!).  Yesterday, about two weeks after submitting the sample, I received my results over the phone.

And finally, some good news: No mutations were found! The results were all clearly negative – not even marginal.

Lefty, you have been spared!!

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