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Testing for inherited cancer susceptibility

Article Abstract:

Several genetic screening tests exist for cancer and other diseases but it may be a while before this type of screening can be integrated into primary care practice. A 1996 study found that fewer than half of the family members of those with the BRCA1 breast cancer gene mutation wanted to know their test results. People at risk of genetic diseases need comprehensive education and counseling. Many primary care physicians will need to decide who will provide this counseling. They will also be the one who has to explain and interpret the test results.

Editorial, Usage, Training, Physicians (General practice), General practitioners

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Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer: Implications for Clinical Predisposition Testing

Article Abstract:

Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) cannot identify all patients affected with this disease. Genetic testing for this type of colorectal cancer is possible because two gene mutations have been linked to the disease: hMSH2 and hMLH1. In a study of 70 families with HNPCC, 24 had one of 27 different mutations. In these 24 families, only 18 had a mutation that could be used to definitively diagnose the disease. Many patients who had been diagnosed with HNPCC using other tests did not have any of the mutations.

Evaluation, Diagnosis, Identification and classification

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Phenotypic Characteristics Associated With the APC Gene 11307K Mutation in Ashkenazi Jewish Patients With Colorectal Polyps

Article Abstract:

In a study of 183 Ashkenazi Jews who had an intestinal polyp, 14% had the 11307K mutation of the APC gene, compared to 6% of the Ashkenazi Jewish population overall. This mutation has been linked to colorectal cancer.

Demographic aspects, Genetic aspects, Ashkenazim

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