PMS2: The cancer gene that keeps on giving
Updated: Sep 21
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. I'd had inflammatory breast cancer in 2000 in Madison, WI -- very deadly at stage 3B with mastectomies, chemo and radiation following. Then, in 2021, I developed that last type of cancer -- endometrial -- and sought help at MD Anderson in Jacksonville, FL. It was believed to have been caught stage 1; I had a quick hysterectomy, no chemo or radiation. I thought I could check that off my list for good, as did the docs.
But I have the PMS2 gene variant and this cancer is good at hiding.
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.
My purpose in writing this series of blogs is not only to journal my (now) metastatic endrometrial 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!
And be your own advocate. Don't ignore any symptoms -- especially urinary tract, which might be indicative of endometrial cancer (it showed up as a slight pink stain in my urine). My doc wanted me to see a urologist; I went instead to my gynecologist and it saved my life during that first bout of cancer because an ultrasound showed it to be of a gynecological source.
Be your own best counsel, in other words, and get genetic counseling if at all possible. My daughter has it, and has to have a lot of screenings much younger than usual to protect her, so if you don't think you're worth the cost of the test, think about anyone else who could be affected. (End of preaching).