Germline pathogenic MSH6 variant

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Hi everyone,

After waiting for fourteen weeks I finally got the results of my genetic test and was found to have a germline pathogenic MSH6 variant. Has anyone else been diagnosed with this? 

  • Hello Sabine,

    My consultant spoke about something called Lynch syndrome which is where there is a genetic link to certain cancers.

    It was discussed with me as my Mum had bowel cancer and I was diagnosed with womb cancer. Mine was negative.

    I will pop a link here for the Ask a Nurse feature as they may be able to explain a bit more about it, if that is what you need. 

    Ask a Nurse - Macmillan Online Community

    Hope this helps

    Jane

           

    Macmillan Support Line - 0808 808 00 00, 7 days a week between 8am-8pm

  • Hello Jane, 

    Thanks for this. I thought it might be Lynch Syndrome, although this wasn't mentioned in the letter, but from what I've been reading, could well be the case. I will 'ask a Nurse'. 

    I hope you are better now. Glad you were negative for LS.

    Sabine

  •  Yes- best to check with a nurse. Or you could call the support line who would be able to help. I don't want to give you the wrong information as it was over a year ago now and because it was negative I didn't pay much more attention to it. I know it also came back no MMR and something wild type but the nurses will be hopefully able to confirm with you. It was explained to me that if it had come back positive it would mean extra screening was a possibility and it would have linked to my Mum's bowel cancer. 

    Jane

           

    Macmillan Support Line - 0808 808 00 00, 7 days a week between 8am-8pm

  • Thank you, Jane. I will do that. 

  • Hi Sabine

    I have been diagnosed with the  MSH6 gene and Lynch Syndrome. I had endometrial cancer and my hysterectomy was a year ago. Took a year to get the results and now my daughters and sisters are waiting on genetic testing. If you want to ask anything, I’ll do my best to answer anything I can. 

  • Hi Morar, Thanks for your message. I had endometrial cancer too and had a hysterectomy seven months ago in  Aberdeen. I recovered fine, and no extra treatment was needed afterward. 

    I hope you are OK now. That's a long time to wait for results. I have an appointment with a genetic counselor on the 5th of June, and my daughter and sister will need testing at some point. 

    Did they tell you it was Lynch Syndrome when they told you about the MSH6?