Thursday, July 2, 2009

My colon cancer screening visit

I am a few days late on blogging this but I wanted to make it very informative for you all. I had my genetic counseling on Tuesday to find out about the colon cancer gene in my family. Luckily my Aunt was tested for the gene and it was found so they know what to look for. Because of this I should have my results back in 3-4 weeks instead of 5-6. You can see this post for my family history of colon cancer.

The gene itself is actually called HNPCC or Hereditary Nonpolyposis Colorectal Cancer. All my information will be from the print out I received at my visit which is here. It affects primarily the colon and anus but can also cause cancer in the uterus, ovaries, stomach, urinary tract, small bowel and bile ducts. Basically the GI portion of your body and it is also called Lynch syndrome or cancer family syndrome. In my family, like I have stated before, it affects mainly the colon, which the genetic counselor said is VERY rare. They usually see an array of cancers of the GI areas in families with the gene. I told her we are a special family.

There are 4 known mutations of the gene. They are hMSH2, hMLH1 (which is the one my family has), hPMSI and hPMS2. Since the gene is a dominant gene it does not require 2 genes to be passed on to offspring, as is the case with CF. So obviously my dad has the gene (given he had cancer at the youngest age out of his 8 siblings) and there is a 50% chance that he passed it on to my brother and I. If my brother has the gene, he has a 50% chance of passing it on to James and the new baby. My brother has no desire to get tested as of yet, and refuses to get colonoscopies. Consequently, I am hoping I have the gene so that he will get tested (the genetics team thinks I’m crazy LOL).

A lot of what they told me did not bother me at all. I am used to hearing “bad” things from having CF. They acknowledged that too and said that I was very calm and didn’t seem phased by anything. But really I have known about the possibility of colon cancer my whole life so I have been able to deal with it. It’s not like I just had a colonoscopy and was told I have cancer. I am just getting tested to see if I need said colonoscopies. They offer counseling and support groups for those with the gene and also for those who are waiting for the results. I am not anxious at all, and will most likely forget about it until my CF dr appointment in 2 weeks and then again until I get the phone call with the results. I am lucky enough that they offered to just call me with the results instead of making me come down for another appointment. I just had to give my consent which I was more than willing to do.

This quote from the print out will help calm anyone out there that is thinking OMG my great grand daddy had colon cancer and that was it in my family! “Persons at risk for HNPCC usually have a family history of two successive generations of colon cancer or at least once generation with cancer and one with polyps”. So if only one person in your family has had colon cancer and no one had has polyps, chances are slim you have the gene. NOT saying you DON’T, just saying chances are slim. And remember I am NOT a genetics counselor nor am I a doctor!

It was mentioned that when females are found to have the gene, they think about having hysterectomies to remove the risk. They said only with females in menopause and that have had children. I asked about the possibility of having mine removed if I have the gene since I will definitely not be having babies and they told me we would talk about it after the results come in. If I do have the gene they will schedule a colonoscopy and upper GI scan to see if I have any polyps.

That was it and I am glad I finally had it done. I am going to talk to my brother more about him getting the testing since it is a lot easier than a colonoscopy. If he doesn’t have the gene then he doesn’t need to be poked and prodded in the buttocks region. But if he does, it will be good to know for James’ benefit and the new baby’s.


  1. Good that you went and got all that great information. I have to schedule a colonscopy soon too. Just getting over an obstruction and my doc said that they prefer to screen CF early anyway. Joy ;)

  2. I think it smart to equip yourself with as much knowledge as possible about your body so you can be proactive rather than reactive. Good job!

    Did you ever get the right mix of 7% down?


  3. Hi Amy, I just ran across your blog--goggle reader suggested it to me! But anyway I am a genetic counselor, so if anyone happens to read this post and thinks they may have a strong family history of colon or uterine cancer--feel free to contact me and I can direct you to a counselor in your area :) Amy--this is great, I always am on the look out for people who blog about their experience with a genetic counselor!