Information, insight, experiences with Chek 2 Mutation diagnosis

Have you put the Check 2 mutation in the search bar? I have BRCA2 and i used that to find different posts. You can also go to BC.rg-breastcancer.org. May Clink will have many posts to find and others who will post.
Did your medical team provide any info? It sounds like you are clear at the moment with your tests. That sounds good.

@rmleau

Welcome to Mayo Connect. I happen to meet with a genetic counselor yesterday as part of a research study. Genetic testing is helpful for providers to know what patients are at higher risk and need to be monitored. Or, if already have a diagnosis, to determine treatment plans. I do not have check2, but based on genetic tests and family history I am at slightly higher risk for couple disease than general population.

Just because you have genetic mutation, does not mean you will get cancer, just at higher risk then normal population. Sounds like you are being monitored closely for breast cancer.

It is always helpful to discuss results with provider or genetic counselor.

Was the genetic testing order by your provider or done independently?

This article just came out, might be a little helpful? Kate Singletary’ story about Chek2 cancer. Her sister was diagnosed not long after Kate.
https://www.womenshealthmag.com/health/a62669483/triplet-sisters-double-mastectomies-breast-cancer-awareness-month/
She sounds like someone who would more personally share her story, if contacted, as she has done cancer fundraising in the past. Kate is on Facebook, I think her page is Kate.singletary.33 - but I don’t have a Facebook account to check it out.

It was ordered by my provider through advice from a women's clinic NPR I know. She suggested I ask about the Tapestry study for women my age (some genetic tests). My Mayo provider checked and Tapestry was closed, but she made an appt with genetics because of my family history of bc and heart disease. Medicare did pay for the testing. I am just trying to educate myself so we can have better discussions. BRAC 1/2, cholesterol/heart all negative, but there was Chek 2, positive. Thanks for the reply. I have an appt in Jan to discuss further.

Yes, I did search Chek 2, found a few. Also contacted Cancer Education at Rochester. I am just educating myself so I know what my medical team is talking about. I am with the High Risk BC team at Rochester.
I didn't know about bc.org, thank you. I've already learned things like, what specific mutation I have.

I also don’t have the BRCA genetic mutations, but have a genetic variant on the BLM gene that confers an increased risk of multiple types of cancers (my Mom has the same mutation and has been diagnosed with three different primary cancers). I discovered all this when I was diagnosed with early stage breast cancer. If you are into reading the existing research, the NiH Pubmed publications have been helpful to me. Here’s one: https://pmc.ncbi.nlm.nih.gov/articles/PMC11465949/.
This article specifically connects the various pathways that cancer uses and which genetic variants are impact each pathway. It’s a whooollle lot of science, but I find the research helps me better understand what’s going on, which in turn lessens my anxiety some.
https://www.tandfonline.com/doi/full/10.1080/28354311.2023.2264176
Sending positive vibes energy your way for good health! 💗

katie5515
Thank you for posting these links. This is the first time i have read about TP53 with Breast cancer. My diagnosis brought me to COH where i was invited to have a genetic test done. 2days before i wad to start my chemo i got a BRCA2 diagnosis and my treatment shifted big time. Two years after this treatment my blood was not recovering. What ended up happening was a blood test by my new hematologist that found a TP53 mutation!!!
I had a bone marrow transplant this past April.
I never ever thought to look at my genetics. Ever. In the writing from the first link, it spoke of Cancer at 60. I was that age at my diagnosis, with no other illnesses before that. Nothing big. Basal skin cancers.
You provided me a link i can share with my 4 siblings. Let them take another step to learn more. 2 of the 4 have the BRCA2 mutation, but the TP53, not yet.

Here are related discussion about the mutation CHEK2
- Anyone else have CHEK2 gene mutation? And have had multiple cancers?
https://connect.mayoclinic.org/discussion/anyone-else-have-chek2-gene-mutation-and-have-had-multiple-cancer-sca/
- Genetic testing...does anyone have the CHEK2 gene mutation?
https://connect.mayoclinic.org/discussion/genetic-testing-does-anyone-have-the-chek2-gene-mutation/
- CHEK2 genetic mutation and thyroid cancer
https://connect.mayoclinic.org/discussion/chek2-genetic-mutation-and-thyroid-cancer/
- Cancer and Genetic counseling
https://connect.mayoclinic.org/discussion/genetic-counseling-not-sure-where-to-put-this/
See all https://connect.mayoclinic.org/search/discussions/?search=CHEK2

@rmleau, what did you learn at your appointment at the high-risk clinic? How is the decision-making going?

Thanks for the info. My next appt is Jan 14. My first appt was in August, pretty general. I am preparing. At 67, am I too old for the surgery option? Looks like that may be a factor. I'm okay with whatever is best, just trying to learn about it. I'll look at these links.