anyone know about chek2

Hi Everyone,

I have previously posted in the under 50's group as i'm only 39. Please feel free to look at my post in that group.

Thank-you to 'latchbrook' who kindly suggested I post on here too. 

I am wondering if anyone else on here has been diagnosed with a chek2 alteration?

I'm very aware that's its rare. Even a routine doctor's appointment yesterday wasn't routine! - they asked if I knew how unusual my particular case was and that was before they had read the notes on chek2, which they didn't know about or understand and so I left the appointment with them thanking me for attending and informing/teaching them something new!

I digress, does anyone have or know anyone with chek2 alteration/chek2 gene mutation?

  • Hi

    I also have this gene mutation. I was tested because of having breast cancer and 41 and then rectal cancer at 45. There seems to be little information regarding the mutation and the type of cancers it can make one more likely to get - different sites give different information.

    I’d be really grateful is anyone knows of a definitive list of cancers the CHEK2 mutation can cause - at least then we’d know which symptoms to be looking out for.

  • Hello,

    i too have this gene mutation. It was picked up as part of geno sequencing on all cancer cases diagnosed by my hospital. I have seen an oncologist consultant and a genetic counsellor who went though my family history and identified those family members who would be give free NHS genetic testing.

    The upshot is that having the CHEK2 mutation raises your risk of breast cancer from 12% to 25%. To put some context on this, the BRAC1&2 is 80%. Plus CHEK2  increases your chance of colon/rectal cancer. As this is a relatively new mutation they are still trying to understand its full implications. My breast cancer surgeons p view was that they were getting so much new information regarding gene mutations that it was difficult to understand all the implications.

    I hope this helps.


  • I do have the chek2 gene.  I was diagnosed with BC in 2005, and so it's been 15 yrs now.  Just had a hysterectomy because tamoxifen caused polyps in utero..

  • Yes I have it, too.  Colon and Breast cancer risks are increased, but with extra screening not hugely worrisome to me.   Just had a hysterectomy, though, because of polyps that tamoxifen has caused in utero. Big sigh.

  • I also have it and have stage 4 rectal cancer as it wasn’t a gene change they’re we’re aware of when I was tested for BRACA. I had breast cancer at 41 so pretty young, that would maybe be an alert now! If you’re at all worried I would ask for earlier bowel cancer screening.