Abstract:
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.
摘要:
我们的大多数遗传性乳腺癌基因不仅增加了患乳腺癌的风险,也增加了其他恶性肿瘤的风险。了解个体是否在遗传性乳腺癌基因中携带致病性变异不仅会影响对患者的筛查,也会影响对他或她的家庭成员的筛查。通过多基因小组识别和适当测试个体可以降低风险并在有风险的个体中进行早期监测。放射科医生可以作为女性的一线识别者,这些女性有患乳腺癌遗传倾向的风险,因为他们正在与所有接受常规筛查乳房X光检查的女性互动,并收集提示突变存在的家族史。我们在这里概述了国家综合癌症网络遗传/家族高风险:乳腺和卵巢(版本3.2019)中讨论的与高乳腺癌风险相关的11个基因,作为年度乳房X线照相术之外的额外乳腺癌筛查建议,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。