How prevalent is cancer family syndrome?

Article Abstract:

Colorectal cancer is a significant cause of morbidity and mortality in all industrialized nations. Efforts to reduce mortality by early detection through mass screening have met with limited success, despite several large trials involving over 250,000 people. No reduction in mortality has been proved in groups of patients assigned to colorectal cancer screening. Success rates might improve if screening were directed specifically to the segment of the population known to be at increased risk for colorectal cancer. If this is to be effective, a clear understanding of what constitutes a risk factor for this disease is needed. It is often assumed that cancer family syndrome, a heritable condition in which close relatives share an increased risk for developing certain types of cancer, is a powerful risk factor. Cancer family syndrome is somewhat loosely defined, and very few attempts have been made to characterize the prevalence in defined populations. To remedy this situation, an epidemiological study was carried out in Northern Ireland in which the incidence of cancer among 1,811 first-degree relatives of 205 colorectal cancer patients was determined. Cancer family syndrome was defined as the presence of three or more relatives affected by colorectal cancer. Using this criterion, the prevalence of cancer family syndrome was estimated to be between 1 and 2 percent, much less than had been generally assumed. These results have implications for population screening, and indicate that more research is necessary before an effective screening program for colorectal cancer based on known risk factors can be developed. (Consumer Summary produced by Reliance Medical Information, Inc.)

Colorectal cancer, Demographic aspects, Northern Ireland

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Chromosome 11 allele loss in sporadic insulinoma

Article Abstract:

Substantial evidence now suggests that some malignant tumors are generated by recessive mutations. This theoretical model is supported by the case of retinoblastoma, in which allele loss has been confirmed. (An allele is one or more genes occupying corresponding positions on paired chromosomes.) A recent family study indicated that the gene for multiple endocrine neoplasia type 1 syndrome (MEN-1) is localized on chromosome 11. In addition, studies with insulinomas removed from two brothers with MEN-1 syndrome showed allele loss from chromosome 11. Three unrelated cases of sporadic insulinoma were evaluated using fresh tissue and peripheral blood samples. DNA was extracted from these samples and compared. Allele losses were demonstrated by comparing Southern blots prepared from tumor and blood DNA. One case failed to show a loss; the second showed a loss at one locus; and the third revealed losses similar to those observed with MEN-1 at loci 11p and 11q. Allele losses in 11p sequences also occur in Wilms' tumors, and bladder and breast cancers. (Consumer Summary produced by Reliance Medical Information, Inc.)

Tumors

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Insulinoma: cost-effective care in patients with a rare disease

Article Abstract:

The use of calcium stimulation injections to detect the location of insulinomas before surgery may be both unnecessary and cost-ineffective. An insulinoma is a rare insulin releasing tumor of the pancreas. Researchers have proposed injecting calcium into the major arteries supplying the pancreas of patients suspected of having an insulinoma. An elevated level of insulin production in a stimulated artery may localize the insulinoma to the segment of the pancreas that the stimulated artery supplies. However, most surgeons rely on ultrasound and their skilled sense of touch during surgery to locate insulinomas. These techniques together are approximately 95% to 100% successful. The cost of adding a preoperative test that only gives a general location of an insulinoma may be unnecessary. Referring patients with suspected insulinomas to a skilled surgeon may be the best treatment strategy.

Analysis, Economic aspects, Medical care, Cost of, Health care costs, Location, Diagnosis

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