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Human Genome News Archive Edition

Human Genome News, January 1994; 5(5)

New Mutation Revealed in Cancer Gene

Discovery Will Lead to Presymptomatic Tests for Colon, Uterine Cancer

An international team of investigators has identified a gene whose alteration leads to colon cancer in about 1 in 200 people in the western world. The discovery not only revealed a new type of cancer-causing mutation but promises to shed light on the origin of other cancers. The gene, called MSH2, when mutated appears to be responsible for hereditary nonpolyposis colorectal cancer (HNPCC), one of the most common inherited diseases in humans. HNPCC causes as many as 1 in 6 colon cancers as well as an increased risk of uterine cancer. Isolation of the gene is expected to lead quickly to presymptomatic testing to identify people at very high risk of developing colon or uterine cancer.

The MSH2 gene discovery involved a partnership among members of the Laboratory of Cancer Genetics of the National Center for Human Genome Research (NCHGR) and investigators supported by the National Cancer Institute and the National Institute of GeneralMedical Sciences. NCHGR Director Francis Collins called the collaboration an "ideal convergence of clinical research, basic research, and investment in the gene-finding tools of the Human Genome Project."

One team, led by Albert de la Chapelle (University of Helsinki) and Bert Vogelstein and Kenneth Kinzler (Johns Hopkins Oncology Center), published its findings in the December 17 issue of Cell. Among the 35 authors who contributed to various aspects of the cancer and genomics research were 2 DOE-funded investigators. David Chen (Los Alamos National Laboratory) generated somatic chromosome 2 hybrids, and Fa-Ten Kao (Eleanor Roosevelt Institute for Cancer Research) microdissected G-banded metaphase chromosomes.

The December 17 report complements an article in the December 3 issue of Cell, in which Richard Kolodner (Dana-Farber Institute) and Richard Fishel (University of Vermont) extended their studies of the "mismatch repair" process regulated by bacteria and yeast genes similar to MSH2. They used genetic similarities in these genes to find a counterpart in human DNA and link the human MSH2 gene to HNPCC.

In 1991 Vogelstein, Kinzler, and other scientists including Ray White (University of Utah) and Yusuke Nakamura (Tokyo Cancer Institute) identified the gene associated with familial adenomatous polyposis [see related article and HGN 3(3), 15 (September 1993)]. Since then, an active search has been conducted for genes related to more common forms of colon cancer, including HNPCC. Last spring, the Hopkins team collaborated with de la Chapelle's group to identify a chromosome 2 region that contained the HNPCC gene. That work hinged on the use of microsatellite markers.


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Human Genome Program, U.S. Department of Energy, Human Genome News (v5n5).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.