Nguyen Jonathan V, Thomas Martha H
University of Virginia Health System, Department of Radiology, Charlottesville, VA.
University of Virginia Health System, Emily Couric Clinical Cancer Center, Charlottesville, VA.
J Breast Imaging. 2019 Jun 4;1(2):84-91. doi: 10.1093/jbi/wbz014.
The majority of our hereditary breast cancer genes incur not only an increased risk for breast cancer but for other malignancies as well. Knowing whether an individual carries a pathogenic variant in a hereditary breast cancer gene can affect not only screening for the patient but for his or her family members as well. Identifying and appropriately testing individuals via multigene panels allows for risk reduction and early surveillance in at-risk individuals. Radiologists can serve as first-line identifiers of women who are at risk of having an inherited predisposition to breast cancer because they are interacting with all women receiving routine screening mammograms, and collecting family history suggestive of the presence of a mutation. We outline here the 11 genes associated with high breast cancer risk discussed in the National Comprehensive Cancer Network Genetic/Familial High-Risk: Breast and Ovarian (version 3.2019) as having additional breast cancer screening recommendations outside of annual mammography to serve as a guide for breast cancer screening and risk reduction, as well as recommendations for surveillance of nonbreast cancers.
我们大多数遗传性乳腺癌基因不仅会增加患乳腺癌的风险,还会增加患其他恶性肿瘤的风险。了解个体是否携带遗传性乳腺癌基因的致病变异不仅会影响对患者的筛查,也会影响对其家庭成员的筛查。通过多基因检测板识别并对个体进行适当检测,有助于高危个体降低风险并进行早期监测。放射科医生可以作为有乳腺癌遗传易感性风险女性的一线识别者,因为他们与所有接受常规乳腺钼靶筛查的女性接触,并收集提示存在突变的家族史。我们在此概述了《美国国立综合癌症网络遗传/家族性高危:乳腺癌和卵巢癌(2019年第3版)》中讨论的与高乳腺癌风险相关的11个基因,这些基因除了每年进行乳腺钼靶检查外,还有额外的乳腺癌筛查建议,以作为乳腺癌筛查和降低风险的指南,以及非乳腺癌监测的建议。