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Monday, April 29, 1996, 12:00 p.m. EDT
Mutations in BRCA2, the second breast cancer gene to be identified,may not be involved in as many inherited cases of breast cancer as first thought-but may have a role in some pancreatic cancers,according to researchers at Duke University Medical Center and the National Institute of Environmental Health Sciences.
Their study of 49 families with strong histories of breast cancer was reported today in the May issue of the journal Nature Genetics. Their findings, the researchers said, may leave room for a third significant breast cancer gene -- and perhaps more. Most of the 49 families studied are Canadian and all had family members being treated by Canadian physicians who collaborated in the research.
Mutations of the first breast cancer gene identified, BRCA1, appear to account for about half of the 5-10 percent of breast cancers that run in families. The gene was identified in 1994 by scientists at NIEHS, the University of Utah and Myriad Genetics. Mutations of the second breast cancer gene, BRCA2, identified just last December by an international collaboration that included researchers at Duke and NIEHS, was initially believed to be involved in most of the rest of familial breast cancer.
However, senior author and principal investigator Andrew Futreal of Duke, where the current study was initiated, and lead authors Catherine M. Phelan of Duke and the Montreal General Hospital Research Institute, Canada, and Johnathan M. Lancaster, a research fellow at NIEHS, reported that their new results suggest that the "breast cancer families attributable to BRCA2 may be overestimated."
- NIEHS' Dr. Lancaster said, "This gives us the exciting prospect that other breast cancer susceptibility genes await discovery."
The 49 families studied were those with patterns of inherited breast cancer that are unlikely to be due to mutations in BRCA1.Thus, they were expected to have a large number of mutations ofBRCA2. However, only eight BRCA2 mutations were found.
The study confirmed a significant risk of male breast cancer in members of BRCA2 mutated families. Half of the eight families with BRCA2 mutations also had members with pancreatic cancer at young ages-a strong suggestion that they may be associated. Prostate cancer was also present in two of the eight families with mutations compared to only three of the 41 families without mutations.
Futreal was a part of the NIEHS team that identified BRCA1 and subsequently got his own lab at Duke Medical. He, at Duke, and Lancaster, at NIEHS, were also part of the international teamthat identified BRCA2.
Additional authors of the current paper are Patricia Tonin, Montreal General; Curtis Gumbs, Duke; Charles Cochran, NIEHS; Ron Carter, McMaster University Medical Center, Hamilton, Ontario; Parviz Ghadirian and Chantal Perret, Research Center, Hotel Dieu de Montreal; Roxana Moslehi, University of British Columbia; France Dion, Marie-Claude Faucher, Kiran Dole, Sepideh Karimi and William Foulkes, all of Montreal General Hospital Research Institute; Hafida Lounis, Institut du Cancer de Montreal; Ellen Warner, Sunnybrook Regional Cancer Center, Toronto; Paul Goss, Toronto Hospital; David Anderson,M.D. Anderson Hospital, Houston, Texas; Catharina Larsson of the Karolinska Hospital, Stockholm, Sweden, and Steven A. Narod, Womens College Hospital, Toronto.
An institute of the National Institutes of Health, Bethesda, Md.,the National Institute of Environmental Health Sciences has its own 509-acre campus in Research Triangle Park, N.C. NIEHS scientists frequently collaborate with those at nearby Duke University interested in the varying susceptibility of humans to environment-linked diseases. Some mutations of genes can be caused by chemicals,radiation and other environmental factors.
About the National Institute of Environmental Health Sciences (NIEHS): NIEHS supports research to understand the effects of the environment on human health and is part of the National Institutes of Health. For more information on NIEHS or environmental health topics, visit www.niehs.nih.gov or subscribe to a news list.
About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
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