A Method for Detection of Cancer and/or Risk of Cancer Based on Loss of Imprinting
At present, genetic testing is able to detect only a small fraction of the population at risk of cancer. For example, FAP mutations are present in less than 1% of the population, and hereditary nonpolyposis colorectal cancer mutations are present at only about 0.1% prevalence. A method has been developed for detecting partial or complete loss of genomic imprinting in both colorectal cancers and the normal tissues of colorectal cancer patients. The frequency of this abnormality in the population is 12% and the odds ratio of colorectal cancer in the presence of abnormal imprinting is approximately 7-fold higher. This assay represents the first genetic test that may detect or predict risk of cancer in a substantial fraction of the population. In addition, this test detects patients whose tumors show errors in DNA replication repair. The existing tests for replication repair errors require that a tumor already exists whereas this test can be used on apparently normal tissue.
Feinberg, Andrew Paul
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