I ended up meeting (by phone) with the genetic counselor on April 1, the day before my Big Day o’ Appointments. It was kind of nice, because I would be able to give a blood sample at the lab if we decided it was a good idea to test.

According to the genetic counselor, about 5-10% of breast cancers are related to genetic mutations, 65% are “sporadic” meaning no one knows why they happened, and the rest are likely familial-related but where they don’t know exactly why.

There are two breast cancer mutations that they can test for: BRCA1 and BRCA2. If you have those genes, you have a 40 to 80% chance of developing breast cancer in your lifetime. If you’re a regular person without the mutation, you have a 12% chance – 1 in 8. And I knew that 1 in 8 statistic already.

The genetic counselor had me tell her about my family tree, up to grandparents, and then down to nephews and nieces, and explain any cancer history.

There is very little cancer history in either side of my family. The short version: out of my immediate family, grandparents, aunts, uncles, cousins, and everyone, there are only three cancers that I know of: Paternal aunt had breast cancer which is now completely cured; paternal grandmother developed colon cancer in her 90s, and one maternal cousin has a different kind of cancer (gall bladder, I think). That’s it. No one else that I know of has had cancer.

Immediate family: Mom, dad, sister, brother, five nieces and nephews. No cancer (except me!).

Dad’s side: Grandparents, one half-uncle, one uncle, two aunts, 6 cousins.

Mom’s side: Two aunts, three uncles, 9 cousins, several cousins-once-removed.

They can do the breast genes, and they can also do a full gynecological panel which tests for all the gynecologic-related cancer mutations.

I decided to do the full panel. Although my family history didn’t look very suspect, I do have one aunt with BC and I am evidently pretty young to be getting it. And also, because getting better information now, even if the news is bad, means I’ll be able to get more thorough treatment now. My uterine fibroids and excessive bleeding were worrisome anyway – I’d want all that stuff removed if it was going to cause me cancer trouble later.

There are three possible results on the screening:

  1. Positive: That means you have the mutation and you need to think really hard about what kind of treatment to pursue. Also you probably better tell your relatives so they can make their own decisions about testing.
  2. Negative: That means you don’t have the any of the known mutations. This does not mean you don’t have something that science hasn’t identified yet.
  3. “variance of uncertain significance” this means there was something weird but they don’t know what it means yet. They would send you additional information down later on if they find out more about that particular gene.

Since I’m writing this so much later than when it actually happened, i can say in this post what my results were: NEGATIVE. Not just on the breast cancer mutations, but on the full gynecological panel. So that’s good. I didn’t know these results when I went into the day-long appointments the next day though.