April 2008

New Way to Assess Risks of Some Cancers, Neck and Head Tumors Discovered

Charis EngGenomic researchers at the Lerner Research Institute may have discovered a new way to assess the risk of some people developing prostate and breast cancer and head and neck tumors.

Alleles are members of a pair or series of genes that occupy specific positions on chromosomes. Researchers led by Charis Eng, MD, PhD, Director, Genomic Medicine Institute (GMI), identified 16 specific locations in the human genome where imbalances of alleles make a person more prone to breast, prostate and neck and head cancers.

The research focused on “germline” genes. These occur in every single cell of the body, are passed from generation to generation, and raise the risk of developing certain cancers. Alleles group in two ways: Different alleles can group at one or more locations on a chromosome, or sets of identical alleles can collect at one or more locations.

During the study, the researchers found that having sets of identical alleles at those specific 16 locations is an important marker for prostate, breast and neck/head cancers.

Researchers also found a parallel with what are called somatic cancers. These cancers are caused by genetic mutations that occur only in cancer cells and cannot be passed on. Somatic mutations elicit gene alterations until a cell turns cancerous. In the study, cancer patients who had groups of different alleles at those 16 locations on all their germline chromosomes also had corresponding identical alleles at those same locations within their tumor cells.

“The areas of inherited cancer risk and cancers that develop somatically are generally considered two separate fields,” Dr. Eng said. “Our observations link the two cancer genetics fields and are consistent with cancer as a complex genetic trait.”

“By looking at specific locations for identical alleles, we could help to identify people who are more predisposed to developing inherited prostate, breast and head and neck cancers,” she said. “This could be another important risk assessment tool and allow us to better manage patient care even before a disease develops.”

Dr. Eng's co-authors are Guillaume Assié, MD, PhD, Thomas LaFramboise, PhD, and Petra Platzer, PhD, all of GMI. The research appeared in the Journal of the American Medical Association (jama.ama-assn.org/, 2008 March 26;299,1437-1445). The project was partially funded by grants from the National Cancer Institute, U.S. Department of Defense Prostate Cancer Research Program, and the Fondation de France and the Fédération Nationale des Centres de Lutte contre le Cancer. Dr. Eng is the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine.