Johns Hopkins Gazette: September 8, 1997

In Brief
Medical News

First genetic mutation for colorectal cancer identified in Ashkenazi Jews

Researchers at The Johns Hopkins Medical Institutions and the Howard Hughes Medical Institute have identified the first known genetic mutation that causes familial colorectal cancer and have developed a simple blood test to identify it. The mutation, present in over one-half million Ashkenazi Jews, is the most common cancer-related mutation now known. Their findings, reported internationally in the media, first appeared in the Sept. 1, 1997, issue of Nature Genetics.

FCC accounts for between an estimated 15 to 50 percent of all colorectal cancers, but until now its genetic basis has been a mystery, said Bert Vogelstein, Clayton Professor of Oncology, HHMI investigator and co-director of the research. The mutation occurs in a cancer-causing gene called APC, which was previously identified by the same Hopkins researchers and had been linked to a less common form of hereditary colon cancer known as familial adenomatous polyposis.

The discovery is of further importance because it is a common type of mutation previously thought to be harmless. The fact that such mutations might contribute to cancer means that researchers must go back and evaluate them in detail to see if they are associated with specific cancers, said Steve Laken, lead author of this study.

The researchers believe that those who have this APC mutation have an estimated 20 to 30 percent lifetime risk of developing colorectal cancer. "Though they are at increased risk for the disease, it can be detected at an early and curable stage through regular diagnostic screening tests such as sigmoidoscopy and colonoscopy," said Frank Giardiello, director of the Hopkins Hereditary Colorectal Cancer Clinic and Registry. "Genetic counseling should be provided to all patients tested for the APC mutation," he said.

Patients with FCC generally have one or two family members with colon polyps or cancer and typically develop colon tumors in their 50s and 60s. While FCC is believed to account for a larger percentage of total colon cancers occurring in the United States, it is often difficult to distinguish it from non-hereditary colon cancer.

Although this study and the test are specific to the Ashkenazi Jewish population, the investigators say it provides important clues about familial colorectal cancer among the general population as well.

More than 130,000 cases of colon cancer are diagnosed in the United States each year. At least 15 percent, and perhaps up to half, of these cases are thought to have a hereditary component. More than 95 percent of the estimated 6 million U.S. Jews are Ashkenazi. There are over 11.2 million Ashkenazi Jews worldwide, and the researchers estimate that more than 680,000 carry this new mutation. Testing for this specific mutation among this population is currently available at Hopkins. People of Ashkenazi Jewish heritage (typically those Jewish people whose ancestors originally lived in Eastern Europe) with at least one first degree relative (a parent, sibling or child) who has had colon cancer and who are interested in more information about the gene test can call 410-955-4041. The gene test costs $200.

Heartbeat abnormality found in some heart failure patients

Some heart failure patients have an electrical abnormality that prevents the heart from recovering normally after each beat, Johns Hopkins physicians have discovered.

In an article published in the Sept. 2 issue of the journal Circulation, the researchers showed that although patients with heart failure maintained a steady heart rate, the ability of their hearts to recover after each beat was erratic and unstable.

"This is an important finding that requires further study clinically, to see if this is a predictor for dangerous rhythm disturbances, and mechanistically, to examine on a cellular level why this happens," said Ronald D. Berger, an assistant professor of medicine at Hopkins and lead author of the paper.

Approximately 2 million Americans have heart failure. Roughly 300,000 die from it each year, half from arrhythmias.

Other News

Fogarty Fellowships support lonely AIDS investigators overseas

Physicians and scientists in developing countries who want to become involved with AIDS prevention research may see their careers start to fall off abruptly, or their research plans hit a messy political snag. "Right now, in some parts of the world, taking an interest in AIDS may not be the most positive career move," said Christopher Beyrer, an assistant scientist in the Department of Epidemiology at the School of Hygiene and Public Health.

Beyrer, the school's Fogarty Program principal investigator, also directs the NIH's Fogarty Fellowship Program. He notes with some pride that the Fogarty has given support to many talented scientists throughout the world who have been personally or professionally isolated because of their desire to further AIDS research and prevention. "The physician or scientist chosen for a Fogarty Fellowship," he said, "gets solid scientific training and becomes part of the global war against AIDS. This can be a very important step out of isolation."

The Fogarty International Center, named for U.S. Congressman John E. Fogarty, is the only institute at NIH that is primarily concerned with international health. Fogarty training grants have been awarded to 13 universities in the United States that already have links with developing nations and are active in international research in AIDS. The host universities in turn use these funds to train scientists living in developing countries that are experiencing major AIDS epidemics.

"The Fogarty Center AIDS training grant has already made an important contribution towards developing a plan to document and prevent the further spread of the worldwide HIV/AIDS epidemic," said Kenrad Nelson, director of the school's Infectious Disease Program. "Over 170 scientists from developing countries have had training in HIV/AIDS research at Johns Hopkins alone. Having well-trained scientists in developing countries, where 90 percent of the new HIV/AIDS cases will occur in the next 10 years, is critically important. In addition, the Fogarty training grant has allowed Johns Hopkins faculty and students to be at the forefront of one of the most important public health struggles of our time- -the prevention and control of the AIDS epidemic."

Todd Waldman wins BFGoodrich Collegiate Inventors prize

School of Medicine student Todd Waldman has won a prize in the all-collegiate category of the BFGoodrich Collegiate Inventors Program, a national competition sponsored by The BFGoodrich Company.

This year's competition drew 106 entries from 159 students at 72 colleges and universities across the nation. Winning students are from Dartmouth College, Massachusetts Institute of Technology, Northwestern University and the University of Cincinnati, in addition to Johns Hopkins. Winners will be recognized at the annual BFGoodrich Collegiate Inventors Program Awards Luncheon later this month.

Waldman's prize was for "Novel High-Throughput Screen for Anticancer Agents." This allows testing of cancer agents based on their interaction with specially modified cancer cells. This discovery is a rapid screening tool for cancer drugs and should greatly increase the development of new drugs in the future. His adviser was Bert Vogelstein, professor of oncology.

Winners in the All-Collegiate Category receive $7,500, with their faculty advisers receiving $2,500.

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