Scientists have been concerned for many years about the relative importance of environmental factors and genetics in determining cancer risk. It is a widely held belief that 80 to 90 percent of human cancer is due to environmental factors.
Single nucleotide polymorphisms (abbreviated SNPs and pronounced “snips”) are human gene alterations that are presently used by biomedical researchers as exciting new tools to understand how our diet and genetic makeup influence our chances of developing cancer.
One important environmental factor that is believed to influence the risk of developing cancer is diet and nutrition. In an early landmark study, Doll and Peto suggested in 1981 that approximately 35% of deaths due to cancer in the United States were attributable to dietary factors, but they indicated that the percentage could range from 10% to 70%. This issue was revisited earlier this year by Dr. Lichtenstein and his colleagues in a comprehensive study of twins from Sweden, Denmark and Finland. Their results were published in the New England Journal of Medicine.
The researchers compared the incidence of several common cancers in fraternal twins, identical twins and unrelated subjects to try to determine whether genetic or environmental components were more important determinants of cancer risk. They concluded that inherited genetic factors contribute in only a minor way to cancer susceptibility, while the environment plays the principal role in causing sporadic cancers. These most recent studies confirm a body of earlier work suggesting that the environment plays a key role in cancer risk, and they underscore the potential importance of diet in preventing cancer.
Single Nucleotide Polymorphisms and Disease
The research cited above indicates that both diet and genetics are very likely important causes of cancer. Recent advances in molecular genetics have made it possible for researchers to examine the link between diet, genetics and cancer in ways that were not imagined several years ago. The discovery of SNPs has led to avenues of research that will likely lead to a new understanding of the associations between specific components of the diet and the expression of cancer-related genes. SNPs are changes in single nucleotides in regions of the DNA called genes; these genes code for the proteins found in your cells. Nucleotides are the building blocks that make up genes. SNPs are relatively small changes: the composition of only one nucleotide is altered, out of the thousand or more nucleotides in a gene. In many types of cancer, a large number of nucleotides are deleted from genes that prevent cancer (called tumor suppressor genes), resulting in the inability of the tumor suppressor genes to prevent the development of tumors. The single nucleotide change brought about by SNPs is not so drastic, but this subtle change will nevertheless ultimately lead to an altered protein sequence and a change in the activity of the protein encoded by the gene.
In the United States, both the government and private corporations have a strong interest in identifying SNPs, especially SNPs that may cause cancer and other major diseases in this country. Just as the government and industry collaborated in the recently completed sequencing of the human genome, another major government/industry push to identify SNPs is underway.
A group of 11 major pharmaceutical and technology companies and one large scientific trust has joined forces to identify 300,000 SNPs in the human genome (http://snp.cshl.org/index.html ). These corporations recognize that even if many of the SNPs identified do not affect protein activity, they are still valuable because they may be located near genes that cause disease, and may thus serve as markers for these disease genes. In July of this year, the government-sponsored Human Genome Project and the industry-sponsored SNP consortium announced that they would collaborate in generating a DNA sequence database that would identify and validate 125,000 to 250,000 SNPs.
This effort, which is scheduled to be completed in December of this year, would enhance the “working draft” sequence of the human genome that has already been completed. SNPs in 24 unrelated human donors from diverse backgrounds will be identified, validated and mapped to regions of the human genome that have already been sequenced. Dr. Francis Collins, who heads the government’s Human Genome Project, said that the “collaboration will yield a bumper crop of genetic variations,” and it is expected that the genetic differences that predispose some individuals to disease will be identified, and that the SNPs will serve as targets for drugs and medications that will counteract the disease.
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