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

New to channel. How do you check for those specific markers?

New to channel. How do you check for those specific markers?

I initially did genetic testing through my breast oncologist and was BRCA2 positive. So when my son turned 35 and had to do testing through color.com as suggested by my breast oncologist, I found they were testing for 30 cancer mutations plus other types of mutations (heart, enzymes to metabolize drugs). I had only been tested for 10-12 types so I did the testing with my son (mail saliva with their kit) and that is how I found out both my son and I have the CHEK2 mutation as well. I think it's about $250 for the package now. At the time, I was a family add-on for only $50 more, but I'm not sure they have that special offer anymore. If your doctor doesn't submit a test order, one of their doctors will. Someone will go over the test with you and then you have the option to ask a genetic counselor more questions (at least 5 years ago that's how it worked).

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. 🙂

@colorado77 and @californiazebra
I am 53 and I have CHEK2 mutation and was diagnosed with stage 1 ILBC and today I had my 4 colonoscopy and a 10mm sessile polyp was removed. My father died at the age of 48 from stomach cancer. Based on my CHEK2 mutation results, I am a high risk for BC, colon, cervical, endometrial, ovarian, thyroid, kidney cancer. I had a hysterectomy last year but my ovaries were left. So far I have experienced 1 of the many listed and I pray that my biopsy results is negative. Although I do wonder about what I should do if my biopsy is positive. My middle sister had anal cancer and completed chemo and radiation in 2023. My oldest son has tested for CHEK2 and was negative but I am waiting on my youngest son to test. I pray that God takes care of everyone on this forum and brings peace upon your souls as well as your loved ones🥰

@gigi2016
Thank you for sharing your story and list of CHEK2 risks. I pray that your biopsy comes back negative. So stressful waiting for results. I also pray your other son is CHEK2 negative.

I am curious why they left your ovaries intact when you have an increased risk for ovarian cancer.

Interesting about your father. Did he have any genetic testing? My grandmother died from stomach cancer. She had a 12 pound tumor when diagnosed! She was petite but thought she was just gaining post-menopausal weight. I wonder if she had the CHEK2 mutation? I know my BRCA2 came from the other side of the family, but not sure where CHEK2 came from.

Please let us know how the biopsy turns out. Let’s all keep up with our screenings. Zebra

@californiazebra
Thank you for your prayers and support ❤️ I had the hysterectomy in April 2023 and I found the lump in my breast in May. My gynecologist asked my oncologist should she schedule to have my ovaries removed and she told her no because of the Aromatase inhibitor I have to take for the next 5-10 years. Although they were causing more problems than helping. I started out on Anastrozole but it was causing so many joint pain and headaches, fatigue that she switched me to Tamoxifen and no change so I stopped taking it as well. I will talk to my gynecologist about getting the insurance to approve the surgery to remove my ovaries.
Unfortunately my did not know anything about CHEK2 and he was also being treated for a stomach ulcer before the VA doctors realized it was a tumor the size of a golf ball. He was diagnosed with stomach cancer in Jan 2003 and died June 2003. I was 33 when he passed and his older sister suggested that I get my colonoscopy since I was the oldest child. My first colonoscopy was normal and I my second one June 2022 and it was normal but my EGD said I mild gastritis and it was suggested I change my diet. After my last radiation treatment in August 2023, I had my fourth colonoscopy October 2023 and it had to be rescheduled because my colon was fully emptied after taking both of those Clenpiq drinks. I am glad I was able to have a clean colon for the colonoscopy I had this month because after reading about the polyp and size removed it makes me wonder how long the polyp was there to grow to the size of 10mm and seen in the first 2 colonoscopies. My sister that was diagnosed with anal cancer also has the CHECK2 unfortunately my other siblings and mother won’t get tested.

I will update once I get my results.

Thanks for listening 🥰

I have the nasty CHEK2 gene and have had prostate and breast cancer. Both treated at MN Mayo Clinic. Prostate with 20 proton beam radiation treatments and mastectomy and 3 positive nodes removed and 16 proton beam radiation. I have been taking tamoxifen for almost 3 years and am 84. Just had a 3-year f/u colonoscopy with 2 benign polyps removed. I play bridge, exercise and wash/wax my car while living in an active sr. living facility. No more house/yard chores! My internist checks my thyroid twice/year. This gene is frightening, but I decided that the mind over matter issue was controllable. Took awhile. Be well and decrease your anxiety by not playing "what if." We walk in each other's shoes. Educate your docs about this horrible gene!!

@colorado77 and @californiazebra
I am 53 and I have CHEK2 mutation and was diagnosed with stage 1 ILBC and today I had my 4 colonoscopy and a 10mm sessile polyp was removed. My father died at the age of 48 from stomach cancer. Based on my CHEK2 mutation results, I am a high risk for BC, colon, cervical, endometrial, ovarian, thyroid, kidney cancer. I had a hysterectomy last year but my ovaries were left. So far I have experienced 1 of the many listed and I pray that my biopsy results is negative. Although I do wonder about what I should do if my biopsy is positive. My middle sister had anal cancer and completed chemo and radiation in 2023. My oldest son has tested for CHEK2 and was negative but I am waiting on my youngest son to test. I pray that God takes care of everyone on this forum and brings peace upon your souls as well as your loved ones🥰