My genetic test results came in!
I got a hefty 6-page report with quite a bit of detailed, science-y language that flies right over my little pea brain but I managed to summarize.
I have a mutation in the CHEK2 gene which is "likely pathogenic" - so likely to cause disease.
And another variant "of unknown significance" was detected in BARD1. So basically, there isn't enough science yet to determine what this means, if anything.
What does this mean?
Well, my risk of breast and colon cancer could be increased by as much as 40%. My risk of literally ANY other cancer might also be increased because CHEK2 functions as a tumor-suppressing gene. That is bare bones but click here for more detailed information for you science nerds.
I am heterozygous for R117G variant. The 1100delC variant is the most studied and implicated with breast and other cancers.
About CHEK2
The name CHEK2 stands for Checkpoint Kinase 2. The gene is located on chromosome 22. CHEK2 helps control how cells divide. It can protect cells from becoming cancerous.
So everyone has two copies of CHEK2, one from each parent. Mutations in one copy can increase your cancer risk.
What the hell is BARD1?
The name BARD1 stands for BRCA1 Associated Ring Domain 1. BARD1 is located on chromosome 2. The BARD1 gene works with BRCA1 to repair damaged DNA. Although the two genes work together, the effects of a mutation are different; people with a BARD1 mutation do not have the same cancer risk as people with a BRCA1 mutation.
And since my test came back as a variant of unknown significance. Well, uhhh, not sure?
Squinty bareback rides are good for the soul lol
What I am going to do
I still have to go back to my regular doctor, but the genetic counselor recommended breast cancer screening every 6 months, alternating between breast MRI and regular mammogram. And to get a colonoscopy somewhat soon. There was no talk of mastectomy or any other radical procedures. That is still on the table, but for right now I don't feel it is urgent. (I might if I had a BRCA mutation though)
I am unsure about how much anxiety to assign to this bit of news.
Do I freak out? Become a hypochondriac? I'm just not sure.
Interestingly, my sister has the same mutations I do. She is the one with ovarian cancer and the reason I did this. (But she is doing really well!).
I guess my plan is to keep on living life. L-I-V-I-N.