Anyone else have CHEK2 gene mutation? And have had multiple cancers?

Hi @colorado73

I'm sorry to hear you have dealt with 3 different cancers. Two for me. I have the CHEK2 mutation, but I also have the BRCA2 mutation and that seems to get more attention from my doctors. I was told that CHEK2 doubles risk for breast cancer and slightly increases the risk of colon cancer.

In 2013, I had a double mastectomy due to breast cancer plus ovaries/tubes removed due to the BRCA2 mutation risk. I didn't know about my CHEK2 mutation until 2018 when my 35 year old son had to do his genetic testing and I was able to add on as a family member for $50 so I did since it included more tests than I had in 2013.

Not sure of your age, but colonoscopies are recommended. I had colon polyps removed years ago so they put me on a 3 year repeat schedule instead of the standard 10. Then in 3 years I didn't have any polyps so I moved to a 5 year schedule due again next year. Polyps generally take many years to turn into cancer so keep up with your colonoscopies to be safe. My son also has both the BRCA2 and CHEK2 mutations. He's on the 3 year colonoscopy schedule since he had polyps removed at 37.

Per Ambry genetics website - they found my BRCA2 mutation. CHEK2 cancer risks: You have an increased chance to develop female breast cancer (around twice as high as the average woman), colorectal cancer, and possibly other cancers such as male breast cancer, prostate, thyroid, ovarian, or kidney.

This is the first I've heard of the other cancers. Hopefully, that risk is low. Either that or they are still trying to connect the dots on those risks. Of course you've already had thyroid cancer so you're not feeling that was low. Your skin cancer may not be related at all especially if it was the common types often caused by sun damage. My brother had melanoma (worse kind of skin cancer) and BRCA2 does put you are higher risk for that.

City of Hope (cancer center) states this: CHEK2: About 1 percent of people carry this mutation. It’s more common than the BRCA mutations, but the risk of developing a cancer associated with it is lower. A woman with a mutation in the CHEK2 gene has a 23 to 48 percent lifetime risk of developing a first breast cancer and a 29 percent chance of developing a second breast cancer within 10 years of the first. Having this mutation is also associated with a higher risk of colon cancer.

City of Hope does not mention any other related cancer risks so maybe that's still unproven. I'm interpreting the 29% chance of second breast cancer (it didn't say metastatic) to mean if you didn't have a mastectomy and still have breast tissue putting you at risk. You made a good choice. I had breast cancer recurrence in my chest wall after 7 years, but that may have more to do with ill advice I received about not taking a hormone blocker.

I certainly hope we will not get every cancer we are predisposed to, but I do reasonable screenings. I did an invasive and somewhat risky screening years ago for pancreatic cancer due to BRCA2 and decided after that I won't do any more invasive screening tests except for colonoscopy. MRIs, ultrasounds, CT are okay with me.

I was 54 when first diagnosed with BC and 64 now. My breast cancer recurred when I was 61 and I was also diagnosed with unrelated lung NETS (50 lung tumors) at the same time even though we had known about the mysterious tumors for a long time. NETS does not appear to be related to the BRCA2 or CHEK2 mutations.

Press your doctors for information on any other precautions you should be taking. Or maybe ask for a referral to a genetic counselor so you can get your questions answered there.

I've noticed the cancer risks listed tend to vary from source to source. I also know the data keeps changing on cancer risks with various mutations. More studies are completed all the time. In 2013, I was told I had a 50% risk of ovarian cancer due to BRCA2+. Now, the risk is listed as 11-17% - much lower. I'm still glad my ovaries are gone, but I was done with them. Not sure of your age. Let's hope the data keeps moving in our favor.

I'll be interested to see what others with the CHEK2 mutation have been told and which cancer(s) they have/had. I'm glad you asked the question. Good to know the latest for me and my son. I think I'll ask my UCLA oncologist about the current risks when I see him in 2 months. Just googled for UCLA and it lists breast, colon, thyroid and prostate.

Hang in there. Hopefully, you have seen the last of cancer! Hugs to you. 🙂