I have recently tested positive for BRCA1 gene. My mother died of ovarian cancer 13 years ago at age 57. Although I am healthy, preventive oopherectomy has been advised. I am 49 yo, and perimenopausal. I have had regular CA 125 and ultrasound exams, all normal. Should I seek a second opinion?
Stephen C. Rubin, MD, Professor and Chief of the Division of Gynecologic Oncology, University of Pennsylvania Health System, responds:
Women who test positive for mutations in the BRCA1 gene, and who have a family history of ovarian or breast cancer, have a risk of developing ovarian cancer that has been estimated to be as high as 60%. Screening methods, such as CA 125 and pelvic sonograms, cannot be relied on to detect ovarian cancer early. I strongly agree that women in your situation should have prophylactic removal of the ovaries when they have completed childbearing. Other female members of your family should consider genetic Counseling and testing.