• Jody Glynn Patrick

The Cancer Gene that Keeps on Giving


PMS2. Lynch Syndrome. "You're at a much higher risk for colon cancer, pancreatic cancer and endometrial cancer." This was the summary after MD Anderson hooked me up with a genetics counselor and testing lab. Check off that last type of cancer -- done that, been there this summer. But I have the PMS2 gene variant and I have to take preventative testing seriously.


MD Anderson and the lab came to a positive diagnosis of "Lynch Syndrome" because of the family history -- my mother had colo-rectal cancer and was treated for that before she died of non-Hodkin's lymphoma. My maternal uncle died of pancreatic cancer. My brother had renal (kidney) cancer. The cluster indicates that they also had the gene, and the cluster then becomes a syndrome, and I have it -- based on the endometrial cancer already diagnosed. The breast cancer I had earlier was not related to this gene; that was a separate issue.


And so... I met with another specialist this week, and need a colonoscopy STAT, and the soonest it could be scheduled was the day before Thanksgiving. So we scheduled it. This doctor felt it was incredibly negligent that my past primary doctor (I switched clinics a few months ago) thought a cologuard test kit was sufficient, given my family history. (That's what they told me to do a couple years back, as a routine check.) He actually was agitated over that lack of ordering a high-intensity colonoscopy for me, and said I should have been monitored for colon cancer regardless of the proof of the variant gene, given my family history. Oh well, another good reason that I switched clinics, because my new one made a referral right away.


The good news is that I don't have any symptoms of colon cancer, though many people don't have symptoms until the cancer has progressed. The bad news, of course, is the anxiety pre-testing. I don't expect to leave the surgical site with a colon cancer diagnosis, but I didn't expect the cancer diagnosis I got in July, either. So there's a bit of anxiousness and who likes a colonoscopy, anyway? I don't. But it has to be done.


My purpose in writing this series of blogs is not only to journal my own cancer experience, but to help you prevent yours. IF you have any family history of colon OR/AND endometrial OR/AND pancreatic cancer, GET A COLONOSCOPY AND DON'T RELY ON EASY TO USE KITS THAT YOU MAIL IN! That's the lesson I learned this week.


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