What’s in a Gene


Just over a week ago I went to see a genetics counsellor to discuss whether I should go ahead with tests to find out whether my cancer could have been caused by a genetic malfunction or if it was ‘just one of those things’.

Although bowel cancer in the under 50s is on the rise, it is still considered to be rare and a lot of ‘young’ cases can be attributed to a specific change in their DNA code or a hereditary condition.

My dad came along with me and together with the counsellor, we went through our family tree. Although there has been a lot of cancer in my family, there has only been one other case of bowel cancer, which was my grandfather on my dad’s side who died of the disease when my dad was really young. As genetic testing wasn’t available then, it’s impossible to say whether there was a reason why he developed this. Based on our family tree as it stands and the fact that neither of my parents have shown any signs of bowel cancer or had significant polyps, there doesn’t appear to be much of a family link.

So why go ahead with the testing?

Well, following a further conversation this week with the genetics counsellor, my pathology report indicates that they found 29 polyps in the bowel that they removed from me during surgery. This is a significant amount for it to probably just be a random case and this tied in with the fact that I’m only 31 gives them a good reason to want to go ahead with the testing.

So what will they be looking for?

There are two main conditions that they are looking for in me. The first is the dreaded FAP (Familial Adenomatous Polyposis) again. I’ve already had a colonoscopy to check for any extra polyps that could link me to this and so far it’s been clear. I could still have this though. It’s caused by a dominant gene passed on usually by one parent and causes a break in the APC gene. I could also be the first one in the family to have this. If I do have FAP, then I’m back for more surgery to remove the rest of my large bowel, so we don’t want this!

The second is a condition called MAP (MYH Associated Polyposis). This condition presents in a similar way to FAP but usually with less polyps. This is caused by a recessive gene which means both parents would have had to pass me a crappy gene to cause a break in the MYH gene to cause the cancer. Regular colonoscopies  and endoscopies (cameras in both ends!)are usually the way to manage the condition.

It could be caused by a break in my DNA code that they don’t know about yet. Everybody has changes in their DNA. It’s what makes you, you. It would be hard for them to determine whether one of those changes is what gives me my personality or gives me cancer.

I think it would be good for me to be armed with this information. As well as determining whether there’s a possibility of me being prone to other cancers. I want to find out for my brother and sister (and their future children if they choose to have any) as well and make sure that if we do have these genes that they will never have to suffer the vile treatment I’ve had to cure my cancer.


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