Could gene mutation be responsible for multiple colon polyps in some people?

If you have a family history of colon disease, or even colon cancer, certain genes may be the culprits.

A new study from a team at Brigham and Women’s Hospital in Boston found that two “germline mutations,” DNA changes that are passed from parent to child, might cause multiple colorectal polyps. The findings may help determine who would benefit from gene testing when it comes to assessing the risk for colon cancer, say the researchers, although there’s no definitive data yet on when that testing should take place.

The study, which was published in the Journal of the American Medical Association, evaluated data on more than 8,000 people who had undergone full genetic mapping. 80 percent of people with 1,000 or more polyps carried one of the genetic mutations, while those with between 10 and 99 polyps had very low mutation rates. Their results indicated that testing might be a good idea for people who have a certain number of polyps detected during a routine colonoscopy, or if they have other factors, such as close family members with colorectal disease or cancer, that put them at a higher risk of polyps or cancer.

Colon health is important for its own sake, but also because an irregular digestive process can lead to other conditions, such as gastroesophageal reflux disease, or GERD.

There’s much work to be done in this area, but it’s becoming increasingly clear that some people are predisposed to colorectal disease or colon cancer. That said, if you’re over 50 (or over 40 if you’re African-American) and haven’t had a colonoscopy, it’s a very good idea to see your healthcare provider and schedule one. It’s the best and most effective way to catch any problems early on, and take the necessary steps to avoid any problems further down the road.

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