Forum Discussion

Diana_M3058's avatar
3 years ago

Family Genetics CHEK2

Hello
Just wondering if anyone has done genetic testing and have the CHEK2 gene.  If so, what did preventative treatment did you do pre diagnosis?
Thank you and wishing everyone all the best.
Di 
  • Hi @Diana_M3058
    Not sure you will find another with a CHEK2 gene mutation on this forum as it is relatively rare (3% of those diagnosed with breast cancer), but by all means good luck. From my understanding, discovering you have a CHEK2 gene mutation is useful to look at family genetics. CHEK2 mutation is similar to BRACA mutations in that it indicated that there is a heredity aspect to your breast cancer and other family members should be checked. Although, the risk of getting cancer is not as high with a CHEK2 mutation as it is with BRACA. Similarly, though it increases the risk of several cancers and not just breast cancer.

    To glean any other info, you need to know what type of CHEK2 gene mutation you have, as knowing this will tell you as to whether you are at higher risk of getting metastasis, what sort of chemo (from a group of the standard chemo's) may work best and give you an idea of prognosis.

    Also, what will be particularly useful for you, is that they can use this mutation you have to see how treatments are working along your journey as they can take a blood sample and test for the amount of mutation circulating in tumour cells in your blood. I have a different mutation, but I have these blood tests regularly and the results usual correlate with imaging tests, but of course you can have blood tests done more regularly.

    Hope this helps and good luck with your treatment.

    Cheers
    Lisa
  • Hey @Diana_M3058

    maybe pop over to the Pink Hope group on FB if you haven’t already. Over there you’ll find the gene positives. 

    Also, you can check the medical advice (ie what oncologists, breast surgeons etc) in Australia use regarding cancer treatments including genetic positive/preventative advice on eviq (https://www.eviq.org.au/) if you search on chek2 there is information for patients/caters/families and clinicians (as for all cancer treatments etc)

    cheers