Eng C, Hampel H, de la Chapelle A
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.
Annu Rev Med. 2001;52:371-400. doi: 10.1146/annurev.med.52.1.371.
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.
临床癌症遗传学正成为癌症患者护理中不可或缺的一部分。本综述描述了大多数主要遗传性癌症易感性综合征的临床方面、遗传学及临床遗传管理。2型多发性内分泌腺瘤、冯·希佩尔-林道病和家族性腺瘤性息肉病等综合征，针对其进行基因检测以识别高危家庭成员被视为护理标准。针对这些综合征的基因检测灵敏且价格可承受，并且会改变医疗管理。癌症遗传咨询和检测在其他综合征中可能有益，如遗传性乳腺癌综合征、遗传性非息肉病性结直肠癌综合征、黑斑息肉综合征和幼年性息肉病。也存在一些遗传性癌症综合征，目前尚无检测方法和/或检测不太可能改变医疗管理，包括李-佛美尼综合征和遗传性恶性黑色素瘤。全面的医疗护理需要识别可能患有遗传性癌症易感性综合征的家庭，以便转诊给癌症遗传学专业人员。
