Mutation CHEK2

[Lydia666]

Hey guys,
Genetic test results are in and i have a mutation that predisposes me to several cancers including the 2 i had already- rectal and thyroid. High risk of breast cancer- up to 40%!!

Does anybody know about CHEK2 pathogenic variant??? Am i just doomed?

[Travelgirl]

Nope your not doomed.

You just need to be checked regularly and watched like a hawk now. Nipping cancers as they start is better than catching them late. Plus they know where to be looking.

Hang in there.

[Lydia666]

Nope your not doomed.

You just need to be checked regularly and watched like a hawk now. Nipping cancers as they start is better than catching them late. Plus they know where to be looking.

Hang in there.

Thank you for writing.

[DarknessEmbraced]

I'm sorry to hear you have that mutation!*hugs*

[Nik Colon]

Sorry to hear that I'm sure they will keep a close eye on things. Hugs

[Lydia666]

Thanks everybody. Is genetic test done rarely? Seems like nobody heard of this gene and i only found one post on this forum about it.

[Nik Colon]

Thanks everybody. Is genetic test done rarely? Seems like nobody heard of this gene and i only found one post on this forum about it.

Just from my experience. They did the basic genetic testing when I was dx. They told me to see a genetic counselor who checked my family history and determined I didn't have enough so it most likely wasn't genetic so they didn't test further. Obviously, more testing costs money so they don't want to unless needed.

[Lydia666]

I was told there are two types of genetic testing- one that studies the tumor, how it has mutated which gives the kras and braf mutation results and one is like i had- a blood test that tests for 17 genes, and if you have one it means u have a mutation in each cell of your body.

[Nik Colon]

I was told there are two types of genetic testing- one that studies the tumor, how it has mutated which gives the kras and braf mutation results and one is like i had- a blood test that tests for 17 genes, and if you have one it means u have a mutation in each cell of your body.

Yes, sounds correct from what you are saying, mine tested for the KRAS, BRAF, etc. But not the extended/extra ones.

[BeansMama]

My onc ran the genetic tests for me because my mother is an endometrial cancer survivor. He said if it weren't for that history they would not have run it since the testing is expensive. Thankfully my insurance covered it 100%.

I tested positive for Lynch syndrome, my MSH6 gene is the faulty one. He suspected Lynch because my mother had endometrial and I have CRC.

[Foreveryoung12]

I have lynch syndrome. My dad had colon cancer at 41 and his dad tested positive for lynch Mutation to MSH2.
It's stressful finding out your positive mutation but at least now you can be checked regularly.
I must have a colonoscopy every two years. My first one since finding out about lynch is coming up May 12. I am only 22.

[janklo]

Lydia,
Hope this helps you. My husband and I are very involved in our local Komen affiliate. We recently had a research doc that we sponsor come talk to us. She works on immunotherapy in her research. Right now they discovered a vaccine for woman bc patients with the HER2 mutation, infused it cures them. They will never get bc again. They are so close to a vaccine for breast cancer! She says with immunology, breast cancer will be a chronic disease, manageable within less than 5 years from now.

There is hope for cancer and for a cure!