Non-cancer endpoints in BRCA1/2 carriers after risk-reducing salpingo-oophorectomy

• Published in: Familial cancer 2012-03, Vol.11 (1), p.69-75
• Main Authors: Cohen, J. V., Chiel, L., Boghossian, L., Jones, M., Stopfer, J. E., Powers, J., Rebbeck, T. R., Nathanson, K. L., Domchek, S. M.
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Biomedical and Life Sciences; Biomedicine; Bone Diseases, Metabolic - diagnosis; Bone Diseases, Metabolic - etiology; BRCA1 Protein - genetics; BRCA2 Protein - genetics; Breast Neoplasms - complications; Breast Neoplasms - genetics; Breast Neoplasms - surgery; Cancer Research; Coronary Artery Disease - diagnosis; Coronary Artery Disease - etiology; Depression - diagnosis; Depression - etiology; Diabetes Mellitus - diagnosis; Diabetes Mellitus - etiology; Epidemiology; Female; Follow-Up Studies; Heterozygote; Human Genetics; Humans; Hyperlipidemias - diagnosis; Hyperlipidemias - etiology; Hypertension - diagnosis; Hypertension - etiology; Hypothyroidism - diagnosis; Hypothyroidism - etiology; Medical Records; Middle Aged; Mutation - genetics; Myocardial Infarction - diagnosis; Myocardial Infarction - etiology; Osteoporosis - diagnosis; Osteoporosis - etiology; Ovarian Neoplasms - complications; Ovarian Neoplasms - genetics; Ovarian Neoplasms - surgery; Ovariectomy; Postoperative Complications; Prognosis; Retrospective Studies; Risk Reduction Behavior
• ISSN: 1389-9600; 1573-7292
• DOI: 10.1007/s10689-011-9480-8

Risk-reducing salpingo-oophorectomy (RRSO) significantly reduces the risk of ovarian cancer and breast cancer in pre-menopausal women with BRCA1 and BRCA2 ( B1/2 ) mutations. Despite its clear benefits, little is known about non-cancer endpoints in this population. Medical records were examined in 226 B1/2 mutation carriers, who had previously undergone RRSO with a focus on bone health as well as the frequency of hypertension, hyperlipidemia, coronary artery disease (CAD), myocardial infarction (MI), diabetes, hypothyroidism and depression. From the medical records, DEXA scans, medications and medical conditions were recorded. Of the 226 patient records examined, 16% (36/226) had hypertension, 17% (39/226) hyperlipidemia, 2% (5/226) CAD or MI, 2% (4/226) diabetes, 13% (29/226) hypothyroidism and 14% (31/226) depression. DEXA results were available in 152 women. Of those DEXA scans, 71% (108/152) were abnormal (57% osteopenia and 14% osteoporosis). Among women who underwent RRSO prior to age 50, 71% (62/88) had osteopenia/osteoporosis. Although there was no difference in osteopenia/osteoporosis in women with RRSO prior to age 50 compared to those RRSO  >  50, the age at follow up in these two groups differs greatly (mean age 44.7 vs. 60.6), suggesting that both current age and age at RRSO contribute to bone health assessment. In summary, here, we report the prevalence of non-cancer endpoints in a cohort of B1/2 mutation carriers and note a particularly high rate of osteopenia and osteoporosis in B1/2 with breast cancer undergoing RRSO prior to 50. Despite the risk reduction RRSO offers, attention should be paid to non-cancer endpoints, particularly bone health, in this population.