For some women, October 2012 is the month they were diagnosed with breast cancer. This month, I have seen several newly diagnosed patients.
As a medical geneticist working in a department of obstetrics and gynecology, I have the opportunity to see women in their reproductive years and during the time they are diagnosed with cancer or are potentially at risk for a hereditary cancer syndrome. We often see women the day of their diagnosis or within a few weeks thereafter for genetic testing.
In the case of a woman diagnosed with breast cancer, a mutation in the BRCA gene could potentially alter her primary surgical management. Over the years, I have noticed that the time from diagnosis to primary treatment is often the most difficult time for women and their families, and it is handled in so many different ways, with so many mixed emotions.
In medical school, we are taught about the five stages of grief after a life-changing event, stages set forth by Dr. Elisabeth Kübler-Ross in the late 1960s. In her book On Death and Dying, she discusses these five stages: denial, anger, bargaining, depression, and acceptance. They do not necessarily take place in that order. She theorizes that all reactions are personal and unique to each patient, and I could not agree more.
One patient this month was clearly in the anger phase. She was upset that the tests and presurgical work-up were interfering with her home life and work hours. She just wanted to have the surgery and nothing else. Maybe denial was at work, too; she had an aggressive tumor that might require chemotherapy and radiation, but that was not in her plan.
Another patient was incredibly upbeat, stating that she would be able to handle any test and any treatment plan, but the family member who came with her was distraught.
And yet another patient was clearly depressed. She had just turned 40 and was newly married and was hoping to start a family. This was not something she had expected.
No one expects to get cancer. Yet one in eight women will get breast cancer in their lifetimes. About 7 to 10 percent of breast cancer cases are considered part of hereditary cancer syndromes.
Hereditary Breast and Ovarian Cancer syndrome (HBOC) often occurs in families where cancer is seen at a young age, in many generations and often on the same side of the family. Approximately 80 percent of HBOC is caused by mutations in the BRCA1 or BRCA2 gene. Of those women who have BRCA mutations, 56 to 87 percent will get breast cancer.
The prospect of genetic testing adds yet another layer of complexity to Kübler-Ross’ stages.
The anxiety of being genetically predisposed to cancer and the guilt associated with the possibility of passing that genetic mutation on to offspring is too much for some patients.
Years ago, one of our patients who was close to dying asked us to put her test results in an envelope and give it to her children after her death. She could not bear to tell them that she was BRCA-positive. Patients who are counseled about genetic testing are given their options and are educated about the possibility of changes in surgical or medical management should they have BRCA mutations. Some patients feel relieved and understand the reason for their cancers. Others experience all of Kübler-Ross’ five stages of grief—some with a positive result and some with a negative result. I encourage them all to discuss this information with family members.
Every patient has her own reaction to the diagnosis of breast cancer. And many families have their own stories as well. In this pink month of October, we aim to educate women about their risk of breast cancer and encourage those who may be at risk for HBOC to get tested. Empowering at-risk women with knowledge can lead them to surveillance and medical treatment in the hope of preventing cancer.