Researchers have found a new genetic marker for bowel cancer risk.
People who have a rare mutation in both copies of their MUTYH gene are 28 times more likely to develop bowel cancer, say Professor Richard Houlston and colleagues at the Institute of Cancer Research, London, UK.
The team combined their own figures with those from previous studies, and were able to examine the genetic makeup of more than 30,000 people. They investigated the two crucial mutations in the MUTYH gene, Y179C and G396D, in over 9,000 bowel cancer patients and over 5,000 healthy people.
All 27 people who carried mutations in both copies belonged to the bowel cancer group. These patients tended to develop bowel cancer earlier than average, in their 50s. Carriers of just one of the mutations did not have a significantly increased risk.
Full results appear in the Journal of Clinical Oncology. Professor Houlston said: "This important step forward in the search for bowel cancer genes is all the more impressive having been carried out by a PhD student."
The student, Steven Lubbe, commented: "Our research shows for the first time the increased risk of developing bowel cancer that carriers of these mutations have, but interestingly it does not apply to people who only carry one damaged copy of the gene.
"Although mutations in this gene are very rare and it will only be relevant to a very small percentage of the overall cases of bowel cancer, the results here could be used to detect those people with some of the highest risks and help target screening to relatives of known carriers."
Lubbe, S.J. et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. Journal of Clinical Oncology, Vol. 27, August 20, 2009, pp. 3975-80.
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