We met with the genetics department yesterday to consult on whether I’d be a good candidate for testing. Given my age and that is rather unusual I’d experience this particular disease, they determined I was, and so I gave three vials of blood for them to do a high/moderate risk cancer gene panel.

They will test 20 genes, but they are specifically looking for a correlation between either colon or breast cancer with this ovarian cancer. (In case you’re wondering or are able to decipher, the genes they are testing are APX, ATM, BPMR1A, BRCA1, BRCA2, CDH1, CDKN2A, EPCAM, MLD1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, and VHL.)

There are three possible outcomes:

  1. Negative. No additional action required. This disease is just a fluke, the same as getting struck by lightning.
  2. Positive. Evidence indicates that the variant has the potential to cause medical problems. We’ll meet with the doctors to discuss how we want to proceed after completing this round of chemo.
  3. Variant of Unknown or Uncertain Significance (VUS or VoUS). No clinical significance and no additional action required. The results will be held and will continue to test more people and perhaps additional information will come to light later down the road.

I’ll get results in about 3 weeks.

3 thoughts on “Genetics

  1. Hi Jess- Crazy to hear the news and greatly appreciate you blogging and updating us all on your new challenge and fight with this cancer. We all already know you are going to kick some serious cancer ASS, and prevail as a Champion and become cancer free in due time! You are such a strong, inspiring, caring, beautiful, and of course super funny person, and we will be supporting and praying for you during your fight. Really hate when bad things happen to such good people like you, but there is always a reason. You are so strong and positive and you will overcome this fight and truly inspire us all on your journey. We know you have an amazing support team that will be looking out for you and keep you running strong! You may have been knocked down, but you will Rise Up Stronger! Please reach out if there is anything we can do to help, we are happy to help out ANYTIME!! Look forward to having a victory Pint with you at the end of this journey… Much love, you are a Champion..
    Tim and Leah

    Liked by 1 person

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