Statement from the NIH on cancer genetics findings at Johns Hopkins University

Systematic, genome-wide scans of two types of cancer--breast cancer and colorectal cancer--have revealed important new findings about the genetic underpinnings of these diseases, a team of researchers at the Johns Hopkins Kimmel Cancer Center in Baltimore, Md., an NCI-designated Cancer Center, reports in the September 7 online issue of Science.* The Johns Hopkins group, which included Victor E. Velculescu, M.D., Ph.D., Ken Kinzler, Ph.D., and Bert Vogelstein, M.D., reports that by sequencing the protein-coding regions of some 13,000 genes within each of the tumors, they identified nearly 200 mutated genes, most of which were not previously known to play a role in cancer. Observed changes were not duplicated from one tumor type to the other, and the spectrum of mutations in the breast cancers was substantially different than in the colon cancers.

"The results from the genome-wide sequencing of only 11 breast tumors and 11 colon tumors at Johns Hopkins University are truly remarkable," said National Institutes of Health (NIH) Director Elias A. Zerhouni, M.D. "This groundbreaking work provides a dramatic proof of concept that this research approach holds great promise for providing an understanding of the genomic contributions to cancer. It also provides confirmation that the strategy selected for The Cancer Genome Atlas (TCGA) pilot project at the NIH is likely to produce important discoveries and impact cancer care."

TCGA was launched as a three-year, $100 million pilot project to determine whether large-scale genome sequencing and other genomic technologies could help researchers comprehensively identify the genetic changes that cause cancer. The pilot project, launched in December 2005, is a collaboration between the National Cancer Institute and the National Human Genome Research Institute.

"The findings at Johns Hopkins are just the beginning," said National Human Genome Research Institute Director Francis S. Collins, M.D., Ph.D

Contact: Geoff Spencer
NIH/National Human Genome Research Institute

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