Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, September 1991; 3(3)
Chromosome 5 Update
New Diagnostic Test Possible
Investigators have found the gene responsible for familial adenomatous polyposis (FAP), an inherited form of colon cancer. The gene, called APC for adenomatous polyposis coli, is believed to act as a tumor suppressor. However, individuals who inherit a damaged version of the gene may develop hundreds of thousands of tiny colon polyps that very often become malignant before the person reaches the age of 30. About 1 in 5000 people suffer from FAP.
"This is a gene discovery that can have direct impact for the patient. Early diagnosis and removal of polyps can prevent colon cancer," said investigator Raymond White, whose group reported its findings in the August 9 issue of Cell. Similar results were reported in the August 9 issue of Science by BertVogelstein of Johns Hopkins University and Yusake Nakamura of the Cancer Institute in Tokyo. Nakamura contributed to earlier polyposis research in White's laboratory at the University of Utah. The work was funded in part by the NIH National Center For Human Genome Research.
Discovery of the polyposis gene not only allows early detection of colon tumors but has enabled the development of a simple blood test to identify family members who have inherited the mutant gene. Affected individuals can be watched closely, and intervention may become possible at an earlier stage of the disease.
Colorectal cancer is second only to lung cancer as a cause of death by malignancy. Over 150,000 people will contract the disease this year, and over 60,000 will die of it. At least 20% of these cases, perhaps many more, are attributed to genetic causes.
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v3n3).
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.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.