Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management

In the case study from 2014, two female siblings with a family history of breast and ovarian cancer underwent BRCA1/BRCA2 genetic testing and were found to have a BRCA1 mutation. Subsequently, both underwent prophylactic laparoscopic supracervical hysterectomy/bilateral salpingo-oophorectomy (BSO). Patient 1, aged 39, had no post-surgical evidence of disease after ten years. Patient 2, aged 50, initially had a normal surgical pathology, but cytology revealed malignant cells, and a pathology review found serous tumors. Despite aggressive chemotherapy, she died two years post-surgery. The study concluded that genetic testing in asymptomatic carriers of BRCA mutations can lead to early interventions and aggressive management, including prophylactic surgeries recommended between ages 35-40, to reduce morbidity and mortality from gynecologic cancers. It also highlighted the importance of peritoneal washing and thorough pathological examination to detect occult cancers.