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:
- Negative. No additional action required. This disease is just a fluke, the same as getting struck by lightning.
- 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.
- 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.