What led you to doing the testing? "Surgeon ordered genetic testing because I was 42 at the time of diagnosis. He said they order it on anyone under 50."
What were your results, and what choices have you made based on the findings? "I tested positive for a mutation in MUTYH gene. It’s associated with colon cancer which runs in my family. It’s also associated with an increase in breast cancer and recurrence of cancer. Breast cancer does not run in my family. Even though I am heterozygous for the mutation, it definitely played a role in my decision to have a double mastectomy. I also had a colonoscopy which was clear. I will have to have one every 5 years.
In addition, I tested positive for a BRCA2 mutation of unknown pathogenicity.
Was payment an issue? "No. Insurance covered it 100%"
How have you discussed these decisions with your family? "Yes. I talked to my siblings. Most likely the gene is from my paternal side. The genetic counselor did not recommend testing my children for the gene at this time."
What suggestions would you have for others? "I think it’s really good info to have. Knowing my recurrence percent is higher than average will help my doctors monitor my future screenings."
-- Seriously-Cali, tested positive for BRCA2 mutation of unknown pathogenicity, and MUTYH genetic mutation
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