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June 7, 1995

Medical Genetics

Author Affiliations

Cedars-Sinai Medical Center University of California—Los Angeles School of Medicine

JAMA. 1995;273(21):1692-1693. doi:10.1001/jama.1995.03520450062031

Medical genetics and the Human Genome Project1 have come of age and are now of prime importance for clinical medicine. Important advances have been made, especially in the area of cancer. Rapid progress has been made toward elucidation of the molecular basis of hereditary nonpolyposis colon cancer, which is responsible for almost 15% of all colon cancers. Mutations in four distinct mismatch repair genes, which play a key role in maintaining fidelity during DNA replication and repair in bacteria and higher organisms, have now been identified in patients with hereditary nonpolyposis colon cancer.2

Another landmark in cancer genetics in 1994 was the isolation of a gene for breast and ovarian cancer susceptibility (BRCA1) that appears to belong to the class of tumor suppressor genes.3 An estimated 5% of breast cancers are familial, and the majority of these cases are attributable to two genes, BRCA1 (located at 17q12-q21)

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