The use and interpretation of commercial APC gene testing for familial adenomatous polyposis
Physicians who offer their patients genetic testing must be prepared to discuss the results and offer the patient genetic counseling. Researchers contacted the physicians of 177 people who had been tested for the APC gene. This gene has been linked to familial adenomatous polyposis, a condition characterized by colon polyps that can lead to colorectal cancer. Less than 20% of the patients received genetic counseling before the test and only 17% provided written consent. Physicians misinterpreted the results in 32% of the cases because they did not know that a negative result might be a false negative.
Publication Name: The New England Journal of Medicine
Genetic testing for cancer in children: short-term psychological effect
Children who receive genetic testing to see if they are predisposed to an inherited form of colon cancer may not be adversely affected psychologically. Researchers studied 41 children ages six to 16 who had family histories of familial adenomatous polyposis (FAP) and their parents. Children did not seem depressed or anxious shortly after genetic testing. Children with a risk for developing FAP later in life should continue to be monitored by a doctor. FAP causes colon cancer by the time a person reaches 50 but can be treated and may even be prevented.
Publication Name: Archives of Pediatrics & Adolescent Medicine
Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene
Individuals who have a mutation close to the 5' end of the gene linked to familial adenomatous polyposis appear to have a milder form of this disease. Familial adenomatous polyposis is a colorectal disease characterized by hundreds of polyps in the colon that predispose the individual to colon cancer. In a study of 20 patients with this condition, those with a mutation close to the 5' end of the gene had fewer than 100 polyps and survived longer without developing cancer than those who had a mutation far from the 5' end of the gene.
Publication Name: Annals of Internal Medicine
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