Effect of Genetic Cancer Risk Assessment on Surgical Decisions at Breast Cancer Diagnosis

摘要: Hypothesis Breast cancer gene ( BRCA ) mutation status affects patients' surgical decisions when genetic risk assessment is offered at the time of breast diagnosis, prior to definitive treatment. Patients and Interventions Outcomes following were studied for women newly diagnosed as having who prospectively enrolled in an institutional review board–approved hereditary registry during a 1-year sampling frame. analysis was subjects with calculated probability 10% or higher. Review medical records telephone survey used document treatment assessment. Results Thirty-seven 233 diagnosis. The interval from diagnosis ranged 3 60 days. mean probabil-ity 21% across cohort. Two not tested because low probabilities detection, declined owing intercurrent psychological stressors. Of remaining 32 patients, no detected 22 (69%), (9%) found carry variant uncertain significance, 7 (22%) had deleterious mutation. All opted bilateral mastectomy, whereas 20 patients negative test results chose stage-appropriate P Conclusions Genetic significantly affected women's decisions. Although need feasibility are demonstrated, logistics prove challenging.