Diamond T M, Sutphen R, Tabano M, Fiorica J
Department of Pediatrics, University of South Florida, Tampa, USA.
Curr Opin Obstet Gynecol. 1998 Feb;10(1):3-8. doi: 10.1097/00001703-199802000-00002.
Approximately 5-10% of breast and ovarian cancer cases are due to an inherited susceptibility. The majority of inherited breast and ovarian cancer susceptibility is due to mutations in the BRCA1 and BRCA2 genes; however, other genes responsible for inherited susceptibility to these diseases are yet to be identified. A small proportion of inherited breast and ovarian cancers are due to other genetic cancer susceptibility syndromes including Li-Fraumeni syndrome, Cowden disease and hereditary non-polyposis colorectal cancer. It is recommended that individuals at risk for inherited susceptibility to breast and/or ovarian cancer who are requesting DNA testing be provided with pre-test genetic counseling and education and post-test counseling and follow-up to ensure that all aspects of genetic testing have been disclosed and that the patient has truly given informed consent.
约5%-10%的乳腺癌和卵巢癌病例是由遗传易感性所致。大多数遗传性乳腺癌和卵巢癌易感性是由BRCA1和BRCA2基因的突变引起的；然而，导致这些疾病遗传易感性的其他基因尚未被确定。一小部分遗传性乳腺癌和卵巢癌是由其他遗传性癌症易感性综合征引起的，包括李-佛美尼综合征、考登病和遗传性非息肉病性结直肠癌。建议对要求进行DNA检测的有乳腺癌和/或卵巢癌遗传易感性风险的个体，在检测前提供遗传咨询和教育，并在检测后提供咨询和随访，以确保基因检测的所有方面都已披露，且患者已真正给予知情同意。
