Genetic counseling for hereditary cancer. 1996

H T Lynch, and J Lynch
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska, USA.

This paper provides an overview of the current approach to genetic counseling for cancer, using hereditary nonpolyposis colorectal cancer (HNPCC) as a prototype. Heretofore, when evaluating the possibility of an HNPCC diagnosis, physicians had to rely exclusively on a detailed family history of cancer in the context of an extended pedigree. Patients in the direct genetic lineage who had one or more first-degree relatives with an HNPCC syndrome cancer were told that they had a 50% likelihood of inheriting the deleterious gene. However, with the discovery of the HNPCC genes (hMSH2, hMLH1, hPMS1, hPMS2), genetic counseling can now provide a more precise determination of a patient's lifetime cancer destiny. Since these DNA findings are new, guidelines for sharing this information with patients remain preliminary. One must be certain that the patient wants to receive DNA information and that he or she is aware of potential discrimination by insurance companies and employers, as well as the possibility of psychological sequelae.

UI MeSH Term Description Entries
D003123 Colorectal Neoplasms, Hereditary Nonpolyposis A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer. Colon Cancer, Familial Nonpolyposis, Type 1,Colorectal Cancer, Hereditary Nonpolyposis, Type 1,Familial Nonpolyposis Colon Cancer Type 1,Hereditary Nonpolyposis Colorectal Cancer,Hereditary Nonpolyposis Colorectal Cancer Type 1,Hereditary Nonpolyposis Colorectal Neoplasms,Lynch Syndrome,Colon Cancer, Familial Nonpolyposis,Colorectal Cancer Hereditary Nonpolyposis,Familial Nonpolyposis Colon Cancer,Hereditary Nonpolyposis Colon Cancer,Lynch Cancer Family Syndrome I,Lynch Syndrome I,Syndrome, Lynch
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017408 Guidelines as Topic Works about a systematic statement of policy rules or principles. Guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by convening expert panels. For guidelines in the field of health care and clinical medicine, PRACTICE GUIDELINES AS TOPIC is available. Guidelines as Topics

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