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摘要
摘要
September 1994. "The most impassioned and publicly visible of all genetic races" (The New York Times) comes to a triumphant close with the discovery of BRCA1, popularly known as the breast cancer gene. The result of a four-year international effort involving scientists from the United States, Canada, England, France, and Japan, among others, it is hailed as one of the most significant discoveries in recent medical science.
Breakthrough is the brilliant account of this historic undertaking, its origins and development, and its implications for the future. With vivid profiles of the people and politics behind the events, Kevin Davies and Michael White unfold a scientific detective story that offers a rare glimpse into the complex-and fiercely competitive-world of genetic research.
The race began in October 1990, when Dr. Mary-Claire King startled the American Society of Human Genetics with the news that after fifteen years, her research group had found irrefutable evidence of a gene linking heredity and the risk of breast cancer. From that moment on, the quest to isolate the gene became the focus of worldwide attention, eventually reaching fever pitch. In a race against time and one another, "researchers relentlessly zeroed in on a piece of DNA too small to see, for a prize too enormous to contemplate."
In addition to the pioneering Dr. King, the distinguished scientists profiled include the renowned Francis Collins, who discovered the genes for cystic fibrosis and Huntington's disease, and Mark Skolnick, the entrepreneurial founder of Myriad Genetics, who made fascinating use of the genealogical records of Mormons in his quest for the gene. The intensity of the project brought out the extremes of scientific research, from exhilarating enthusiasm and cooperation to heated rivalry.
Beyond its fast-paced chronicle of discovery, Breakthrough is also a story of the politics of illness, focusing on the impact of the women's movement on breast cancer research and the changing attitudes of the past twenty-five years. Although, as the authors state, our "heightened awareness of the disease has been very late in coming," there is genuine cause for hope. Looking to the future, they explore current methods of screening and treatment as well as the prospects for a cure.
In the United States alone, 183,000 new cases of breast cancer are diagnosed each year-50,000 in women under the age of forty. Breakthrough is proof that modern medicine can at last offer something tangible in the battle against a unique disease about which shockingly little is known.
Rare blend of science, medicine, politics, and human nature.
Breakthrough is the intriguing real-life detective story behind one of the most important genetic research discoveries of recent times.
"Breakthrough is an absorbing and authoritative account of that quest, with an admirable grasp of the roles of the different scientists."-New Scientist
"Isolation of [the breast cancer gene] was an extraordinary technical tour de force, a major medical advance, and perhaps the last great all-out battle of the big gene-cloning empires. As an all-embracing account of the current state of breast cancer, this book has something for everyone."-Nature
评论 (4)
出版社周刊评论
In 1970, after a 15-year search, University of California geneticist Mary-Claire King proved the existence of a gene, called BRCA1, that if damaged can predispose women to breast and ovarian cancer. Four years later, the actual gene was isolated by University of Utah researcher Mark Skolnick-who used Mormon families' genealogies to pinpoint his prey, working in collaboration with geneticist Roger Wiseman's small, government-funded North Carolina laboratory. Another key player in this competitive race was Francis Collins, director of the U.S. Genome Project. As the authors note, screening tests to identify women who have inherited faulty copies of BRCA1 are presently offered almost exclusively in a research-only context; nor is this the only gene that can predispose women to breast or ovarian cancer. Nevertheless, Davies, editor of Nature Genetics, and White, a biographer of Stephen Hawking, believe that BRCA1 can provide a breakthrough in the search for a cure, and their report is top-notch science writing. (Feb.) (c) Copyright PWxyz, LLC. All rights reserved
Kirkus评论
Davies (editor of the journal Nature Genetics) and White (coauthor, Einstein: A Life in Science, 1994) describe one of the most dramatic discoveries to date regarding the influence of genetic factors on health--the most exciting frontier in medical research. The authors relate the discovery and its background in full detail, providing an effective foundation for understanding not only the process of locating the breast cancer gene but, more generally, the nature and treatment of breast cancer. Cancer is the result of an error in the DNA that regulates normal cell division, caused either by an external agency, such as radiation, or by a congenital ``mistake'' in the DNA. The fact that having close female relatives with breast cancer greatly increaseed a woman's odds of getting the disease indicated that a faulty gene might be active in these cases. By the late 1980s, research zeroed in on a gene designated BRAC1, the chromosomal location of which was announced in 1990 by Dr. Mary Claire-King of the School of Public Health at Berkeley. King's discovery--which the authors compare to narrowing down a search for a missing person from all of North America to New York--set off a race among researchers to pinpoint the precise location of BRAC1. King joined forces with Francis Collins, whose laboratory had isolated the genes responsible for cystic fibrosis and Huntington's disease. But in October 1994, a team headed by Mark Skolnick of the University of Utah isolated the gene. While the discovery does not provide a cure for cancer--or even a clue to one--it may allow women to more accurately assess their own risk. Perhaps in the long run, the discovery will lead to genetic therapy for those women who carry the gene. A well-written and exceptionally detailed overview of the search for the breast cancer gene, spotlighting the breakthrough in its full dramatic impact.
《书目》(Booklist)书评
The U.S. records 183,000 new cases of breast cancer and 46,000 deaths from it each year, and 70 percent of the women who develop the disease have no family history of it. Davies and White tell the story of the race to find a gene responsible for breast cancer. They devote much of the text to three individuals: Mary-Claire King, Francis Collins, and Mark Skolnick, the race's eventual "winner." They examine the often competing roles of academic and commercial labs engaged in the search, clearly describe the new procedures that were discovered and the thinking that led to them, and discuss the ethical and psychological questions related to screening for breast cancer. Despite all the media hype about it, finding the breast cancer gene, while opening up intriguing avenues for further research, did little to improve detection and treatment. --William Beatty
《图书馆杂志》(Library Journal )书评
Davies, editor of the research journal Nature Genetics, and White, coauthor of the highly regarded Stephen Hawking: A Life in Science (LJ 5/1/92), are well qualified to write this account of the discovery of the breast cancer gene and to trace the years of scientific inquiry and collaborations leading up to the highly publicized news announcements in September 1994. Their readable, accessible account focuses on the careers of three scientistsMark Skolnick of Myriad Genetics in Utah, who shared discovery credit with 44 other scientists; Mary-Clare King of Berkeley; and Francis Collins, discoverer of the cystic fibrosis and Huntingdon's Disease genes, and since 1993 head of the National Center for Human Genome Research. Ironically, the discovery's therapeutic, prognostic, and diagnostic implications for patients are still primarily in the lab. But, as a result, the medical choices available to patients and public policy, funding, and ethical dilemmas have become increasingly complex and continue to change rapidly. Highly recommended for insight into these vital issues.Mary Chitty, Cambridge Healthtech, Waltham, Mass. (c) Copyright 2010. Library Journals LLC, a wholly owned subsidiary of Media Source, Inc. No redistribution permitted.