Colorectal Cancer Gene Mutation Found

Odds of Developing Colorectal Cancer May Be 9 Times Higher for Mutation Carriers

Medically Reviewed by Louise Chang, MD on August 14, 2008
From the WebMD Archives

Aug. 14, 2008 -- Scientists at Ohio State University and Northwestern University have discovered a gene mutation that may make colorectal cancer almost nine times more likely.

"This probably accounts for more colorectal cancers than all other gene mutations discovered thus far," states Northwestern University's Boris Pasche, MD, PhD, in a news release.

The discovery may lead to a new genetic test for colorectal cancer risk, Pasche and colleagues note.

The mutation, which lies in a gene called TGFBR1, was found in about 10% to 20% of the 242 colorectal cancer patients the researchers studied, compared to 3% of 195 adults without colorectal cancer.

The researchers calculate that carriers of the gene mutation may be nearly nine times more likely to develop colorectal cancer, compared to people without the gene mutation.

Those estimates need to be checked in other, more diverse studies, since most of the participants were white adults in Columbus, Ohio.

Still, "the fact that we saw this abnormal difference in gene expression in at least 10% of the colon cancer patients and in very few people without colon cancer strongly suggests that it plays an important role in this disease," Ohio State University's Albert de la Chapelle states in a news release.

The researchers aren't recommending TGFBR1 gene tests just yet. But such tests "may become part of clinical practice when evaluating a patient's colon cancer risk," states de la Chapelle.

Show Sources


Valle, L. Science Express (advance online edition of Science), Aug. 14, 2008.

News release, Ohio State University.

News release, Northwestern University.

News release, Science.

© 2008 WebMD, LLC. All rights reserved. View privacy policy and trust info