Genetic Test Results Received

What a difference a day makes.

I posted last night about working a full day.  It really took a toll on me today.  Because I compare my cancer journey to a marathon, I had to come to terms with "pacing" myself better.  I've hit my head against this wall several times now.  I think I've finally learned the lesson.  I left work at noon and took a nap.  Then, I resumed some work from home.

During the afternoon I received a call from the Cancer Center.  My genetic tests were back and I tested positive for the BRCA2 genetic mutation.  I am shocked.  I had convinced myself because the original tumor cells were not breast cancer cells the genetic tests would be negative.  The nurse said I could come in to discuss the results with the oncologist or wait until my chemotherapy session next week.  I said that I would research it on my own and develop my list of questions for the appointment.  She said that's what they figured I would do.  They are awesome and know me well already.

Yes, I've done some research on it.  It has significant implications to be BRCA2 positive.  Women are at an 80% risk of getting breast cancer if they are BRCA2 positive. Well, I already have breast cancer so I fall within that statistic now.  The other implications are a much higher risk getting breast cancer in the other breast, ovarian cancer, and several other types of cancer.

According to the National Institutes of Health, men and women can test positive for BRCA2. their site says, "In addition to female breast cancer, mutations in one copy of the BRCA2 gene can lead to an increased risk of ovarian cancer, prostate cancer, pancreatic cancer, fallopian tube cancer, male breast cancer, and an aggressive form of skin cancer called melanoma. Mutations in the central part of the gene have been associated with a higher risk of ovarian cancer and a lower risk of prostate cancer than mutations in other parts of the gene."  Not very uplifting news.  


Many women that test positive for the BRCA2 genetic mutations opt for bi-lateral mastectomy and removal of their ovaries (oophorectomy).  I will discuss this further with the oncologist on Tuesday.  They indicated in an earlier appointment if the test came back positive I could go to the University of Utah to meet with genetic counselors.  Then I will have to make a final decision as to taking the surgical route to reduce my risk of getting cancer again.  I'm already leaning in this direction.  The decision can wait until after I'm done with chemotherapy and radiation.

The other upsetting factor that plays into this news is that there is a 50% chance my children and sister could have this genetic mutation.  We will look at that when the time is right.  Let's just keep funding cancer research and hope for additional success in screening and treatment - and A CURE so my children don't have to go through what I am now.

It's a lot to take in.  It's hard to not be upset after receiving this news.  I'll just let it sink in and educate myself about my options.