Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Medical Association Westphalia Lippe, Hagen, Germany.
Breast J. 2019 May;25(3):455-460. doi: 10.1111/tbj.13257. Epub 2019 Apr 5.
The detection of deleterious germline mutations in BRCA1 and BRCA2 considerably influences the clinical management of healthy and diseased carriers. Therefore, the identification of persons at risk who could uptake genetic counseling and testing is pivotal. We developed a checklist with validated criteria to improve the identification, and prospectively evaluate the incidence, of familial cancer history in 5091 breast cancer patients. The rate of 30.4% of patients at high genetic risk underpins the demand for care in risk identification and counseling. The easy-to-use instrument promotes the implementation and dissemination of risk counseling by physicians.
BRCA1 和 BRCA2 种系有害突变的检测极大地影响了健康和患病携带者的临床管理。因此，确定可能接受遗传咨询和检测的高危人群至关重要。我们制定了一个带有验证标准的清单，以改善 5091 名乳腺癌患者的家族癌症史的识别，并前瞻性地评估其发病率。30.4%的高遗传风险患者比例表明需要进行风险识别和咨询护理。这种易于使用的工具可促进医生实施和传播风险咨询。
