CHEK2

They found a small spot on the left side.

So with that, after that, we did some genetic testing and it turned out that I actually have the CHECK2 genetic marker.

which is different from BRCA, which we hear so much about.

But CHECK2 is little known, but does put me at a more elevated risk for some cancers.

We get two copies.

I'm not going to go into it because I'm not a doctor.

There probably is a, right now there are two BRCA gene mutations that we know about, but maybe there's BRCA 3, 4, 5.

So, and there are other mutations, CHECK2 and PALB2.

But so Sharsheret is based on this relationship that Rochelle had with Lauren.

That's what they started as a peer support network.

I mean, it's sh- I've learned so much about myself going through that testing.

So I found out that I have a CHEK2 gene.

That helps to explain some of the cancer, and I also have the TTN gene, which is a cardiomyopathy gene, so that explains the next part of what happened to me after cancer, the heart failure.

And then I've been, like, pretty much a lifelong vegetarian/vegan.

I, on the other hand, to be honest, have actually found tamoxifen to be the hardest part.

So, you know, I was diagnosed with breast cancer in 2021, and it's lobular carcinoma, and I have a CHEK2 gene mutation.

So when we learned about the genetic component, I decided to have a bilateral mastectomy because at first they were talking about, you know, the option of, of, you know, just maybe doing one side or what we were gonna do.

We were trying to figure it all out.

Those are what we call the high penetrance genes, meaning that if a patient has that mutation in all the cells in her body, the chance that she would develop breast cancer is a high chance.

Then we have moderate penetrance genes like ATM, CHEK2.

These are other genes that are, again, moderate penetrance.

These are tricky genes because they do predispose to breast cancer and other cancer types.

P53 is a higher penetrance gene as well.

They can also be associated with breast cancer, but those are the most common ones where we have therapies that are associated with those alterations.

Last question on CHEK2.

That's of personal interest, and though we don't really usually ask personal questions, but what is the significance of CHEK2 mutation? And it's a relatively new one, right? When I was diagnosed with early-stage breast cancer in 2004, I had a genetic test, and it didn't show that I had BR- BRCA1, BRCA2, and it didn't show anything.

Yeah.

You know, I didn't know that because of the CHECK2 mutation that I have, that somehow with this mutation, it can work together with immunotherapy and help with these positive outcomes.

So our family and friends come together.

our wedding and I have this beautiful wedding dress.

Yeah.

So in, in breast cancer, 7 to 10% of breast cancers have an oncogenetic link, and that's, for example, BRCA1, BRCA2, PALB2, CHEK2.

There are a whole bunch of oncogenes that have-

Mm-hmm