Advanced Test More Accurately Pinpoints Genetic Abnormalities in Some Colon Cancer Patients

Armen Hareyan's picture

Researchers led by a cancer biologist at The Cleveland Clinic have discovered that conversion analysis, a newer form of genetic testing, can be used to more accurately pinpoint genetic abnormalities in patients with certain inherited forms of colon cancer.

The study found that conversion analysis, a technology used to separate chromosomes, can identify genetic defects in patients with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) that sometimes go undetected when more common genetic sequencing is used. Traditional gene sequencing examines chromosomes in pairs rather than individually, which can result in one chromosome masking an abnormality in another. Conversion analysis overcomes this limitation.


"This research indicates that by using conversion analysis, genetic mutations associated with this inherited form of colorectal cancer can be identified in a larger percentage of these patients," said study leader Graham Casey, Ph.D., a researcher in The Cleveland Clinic Department of Cancer Biology. "Without this technology, certain genetic mutations would be missed. From a clinical standpoint, it is important to be able to define a disease as accurately as possible because we can offer more accurate surveillance and prevention recommendations to those at high risk."

Findings for the multicenter study appear in the Feb. 15 issue of the Journal of the American Medical Association. This study was conducted as part of the Colon Cancer Family Registry, a National Cancer Institute-supported study of the genetic epidemiology of colorectal cancer.

The Lerner Research Institute is home to all laboratory-based research at The Cleveland Clinic Foundation. Its mission is to understand the causes of human diseases and to develop new treatments and cures. The Lerner Research Institute is ranked fifth in NIH funding among all U.S. research institutes in 2004. More than 1,100 people (including 130 faculty, 350 junior faculty and Postdoctoral Fellows, and 120 graduate students) work in research programs focusing on cardiovascular, cancer, neurologic, musculoskeletal, allergic and immunologic, eye, metabolic, and infectious disease. The Institute also is an integral part of the new Cleveland Clinic Lerner College of Medicine of Case Western Reserve University