Diane: BRCA negative but breast cancer still runs in her family

Diane: BRCA negative but breast cancer still runs in her family
This is our first in a series of guest posts that we will present to you throughout the month of October, in recognition of Breast Cancer Awareness Month. My goal is to raise awareness of the BRCA gene and how testing for this can save your life. Introducing our first amazing woman:
Diane is an associate professor of Education Policy at the University of Alaska Anchorage and director of the UAA Center for Alaska Education Policy Research. In January, she and some friends, as the "Mixed Methods" team, are participating in the 2014 Seward Polar Bear Jumpoff to raise money for the American Cancer Society. They'd love for folks to join them in the jump (who doesn't want to jump into the ocean in January in Alaska?). She is one of few that are posting in this series that was lucky to have negative BRCA results. 

In 2001, my mother was diagnosed with an aggressive, bi-lateral breast cancer. While I recognized that I should be concerned about breast cancer, my doctors at the time simply recommended that I start annual mammograms a bit early (I was 38, and had already had one mammogram for a lump that turned out to be nothing).

In 2005, my sister was diagnosed with infiltrating ductal carcinoma. Around that time my mother found out that she had older relatives she had never known who had died of breast cancer when they were young-in their 20s. And, we are Ashkenazi Jews. My gynecologist recommended that I meet with a genetic counselor and get tested for the BRCA genes.

We are extremely lucky that in Anchorage, we have a wonderful genetic counselor, Maggie Miller. http://greenandgold.uaa.alaska.edu/blog/4333/alumni_profile_maggie_miller_bs_psychology_03/ Maggie and I had a long conversation about the cancer in my family (in addition to breast cancer, my uncles on my mother’s side both had prostate cancer, my maternal grandfather died of lung cancer and my aunt on my father’s side died from ovarian cancer.).

Maggie suggested that, due to the prevalence of cancer throughout my family, I get a full panel of genetic tests, not just BRCA but the full panel of tests for genes linked to breast cancer. The tests were covered in full by insurance because of my family history. Maggie talked with me about what I would want to consider if I were BRCA positive, in terms of prophylactic breast or ovary removal, as well as other issues to consider. In addition to our conversation, Maggie provided me with written materials, both about our conversation and general information from other sources.

Fortunately, I was BRCA negative. Of course, genetics only explains a relatively small number of breast cancers, but it did mean that I was not forced to make an immediate decision in terms of either my breasts or ovaries. Maggie continued to stay in touch, and connected me with two studies to which I could contribute gene samples so that I can help research on breast cancer not linked to the BRCA genes.

The first is the Sister Study (http://sisterstudy.niehs.nih.gov/English/index1.htm), a study looking at environmental and genetic risk factors for breast cancer through the tracking of women whose sisters were diagnosed with breast cancer. The second is one specifically for Ashkenazi Jews with breast cancer in the family who have tested negative for the BRCA gene. http://beyondbrca.med.nyu.edu./

I see Maggie regularly at Pilates classes, and after my father was diagnosed with colon cancer this past December, she suggested I come back in for another consultation. My father’s cancer was in a spot that is relatively rare (on the right, by the cecum), but also is a location where colon cancer is seen more often in Jews, and may be related to ovarian cancer, from which his sister died.

Maggie recommended genetic testing for my father, but since he is older than the recommended cut off, insurance won’t cover it - and it's about $4000. Still, she gave me good resources, and questions to ask of my doctors, which has led to my getting a blood test (CA-125), an ultrasound as a result of the blood test (on the cusp of bad), and most likely the removal of my remaining ovary which turns out to have cysts that could become problematic.

All in all, I highly recommend genetic testing. I did have one doctor freak out, claiming that I was going to create future problems with insurance. But, that was before health care reform passed, and frankly, I’d rather have too much information to help with difficult decisions than too little.

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