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遗传性乳腺癌-卵巢癌:临床发现与医学管理

Hereditary breast-ovarian cancer: clinical findings and medical management.

作者信息

Marshall Megan, Solomon Sheila

机构信息

Allegheny Cancer Center, 320 East North Avenue, Pittsburgh, PA 15212, USA.

出版信息

Plast Surg Nurs. 2007 Jul-Sep;27(3):124-7. doi: 10.1097/01.PSN.0000290280.48197.e7.

Abstract

Approximately 5% to 10% of breast and ovarian cancers are related to an inherited gene mutation. Of these cases, 84% of hereditary breast cancer and more than 90% of hereditary ovarian cancer are caused by mutations in the BRCA1 or BRCA2 genes. Family histories of cancer are an essential tool in identifying features of and individuals at risk for hereditary breast-ovarian cancer syndrome. The risk to carry an identifiable BRCA gene mutation can be assessed by trained healthcare providers using various pre-test risk models. Individuals who carry a BRCA gene mutation have increased lifetime risks of developing hereditary breast and ovarian cancer syndrome-related cancers. Genetic testing for the BRCA gene mutations is offered in accordance with American Society of Clinical Oncology guidelines. In accordance with guidelines, patients are informed of the risks, benefits, and limitations of testing prior to electing to undergo the testing process. Upon receipt of results, healthcare providers offer the patient with appropriate medical management recommendations.

摘要

约5%至10%的乳腺癌和卵巢癌与遗传基因突变有关。在这些病例中,84%的遗传性乳腺癌和90%以上的遗传性卵巢癌是由BRCA1或BRCA2基因的突变引起的。癌症家族史是识别遗传性乳腺癌-卵巢癌综合征特征及高危个体的重要工具。经过培训的医疗服务提供者可使用各种检测前风险模型来评估携带可识别BRCA基因突变的风险。携带BRCA基因突变的个体患遗传性乳腺癌和卵巢癌综合征相关癌症的终生风险会增加。BRCA基因突变的基因检测是根据美国临床肿瘤学会的指南进行的。根据指南,在患者选择进行检测之前,会告知他们检测的风险、益处和局限性。收到检测结果后,医疗服务提供者会为患者提供适当的医疗管理建议。

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