Genetic testing for cancer predisposition.
Clinical cancer genetics is becoming an integral part of the care of cancer patients. This review describes the clinical aspects, genetics, and clinical genetic management of most of the major hereditary cancer susceptibility syndromes. Multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and familial adenomatous polyposis are examples of syndromes for which genetic testing to identify at-risk family members is considered the standard of care. Genetic testing for these syndromes is sensitive and affordable, and it will change medical management. Cancer genetic counseling and testing is probably beneficial in other syndromes, such as the hereditary breast cancer syndromes, hereditary nonpolyposis colorectal cancer syndrome, Peutz-Jeghers syndrome, and juvenile polyposis. There are also hereditary cancer syndromes for which testing is not yet available and/or is unlikely to change medical management, including Li-Fraumeni syndrome and hereditary malignant melanoma. Thorough medical care requires the identification of families likely to have a hereditary cancer susceptibility syndrome for referral to cancer genetics professionals.
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Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA. eng-1@medctr.osu.edu
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D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics; D015984:Causality; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D005820:Genetic Testing / Q000191:economics / Q000379:methods* / Q000592:standards; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D015994:Incidence; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics; D009369:Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics; D012680:Sensitivity and Specificity; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics