CHEK2 gene mutation???

Morwenna
Morwenna Member Posts: 1,063
edited June 2014 in High Risk of Recurrence or Second Breast Cancer

Hi all,



I have just completed treatments for my TN primary BC. Around the same time as my BC diagnosis, I was also diagnosed with Essential Thrombocythemia. This contributed to development of dvt/pe during chemo, so now I'm on anticoagulants blah blah ......



Anyway, I got to wondering if there was a connection between my E.T. and the BC, and it appears that the CHEK2 gene variant can be linked to both!



Now I don't know if I have too much time on my hands and am overthinking this, but I wondered if anyone here was in a similar situation, or has any views on the matter.



I have no family history that I am aware of, of any form of cancer, so it is something of a shock to be diagnosed with two at once!



I am thinking this is a good argument in favour of proceeding with prophylactic mastectomy, for one thing, but also should I be tested? What are the implications for my kids (2 boys) if I turn out to have this variant?



What do you think?

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  • MelissaDallas
    MelissaDallas Member Posts: 7,268
    edited August 2013

    I had ovarian cancer & a PE with it while I was very sick. Both my Dad's mom and sister had colon cancer. They tested me for CHEK2 and PTEN after my LCIS diagnosis before they did BRCA/BART testing because they thought they were more likely, but I was negative for all.



    I would ask for genetic counseling. They can decide if testing you for anything would be reasonable. They don't just ask you about cancer either. They ask about family with thyroid problems & all kinds of stuff. They can pretty much tell you after doing your family history if it would be at all likely that you have a genetic syndrome and whether any testing would be worthwhile.

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