Study identifies novel genetic factors for colorectal cancer risk

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A large-scale study conducted among East Asians and led by Vanderbilt researchers has identified multiple, previously unknown genetic risk factors for colorectal cancer.

Wei Zheng, MD, PhD, Anne Potter Wilson Professor of Medicine, said the research published recently in Gastroenterology is the second largest discovery of novel genetic risk variants for colorectal cancer in a single study published to date. Zheng, the study’s senior author, and colleagues identified 13 previously unknown variants after conducting a metanalysis of studies from the Asia Colorectal Cancer Consortium that encompassed samples from more than 70,000 colorectal cancer patients and controls.

The researchers performed genome-wide association studies (GWAS) to search for genetic regions that may harbor genes affecting colorectal cancer. Carrying a risk variant in these genes does not mean that someone is destined to develop the disease, but some genes do pose greater risks than others. For example, the study identified two relatively uncommon risk variants in the EFCAB2 and DENND5B genes that are associated with a much higher risk of developing colorectal cancer than the other 11 identified in the study.