ABSTRACT
Reports of BRCA2 genetic mutations on the prognosis of familial breast cancer (BC) patients have been contradictory. True difference in survival, if it exists, would have important implications for genetic counseling and in treatment of hereditary BC. The purpose of this study was to compare overall survival rate (OSR) among BRCA2 mutation carriers, non-carriers and sporadic BC patients. We searched the PUBMED and EMBASE databases and retrieved 4529 articles using keywords that included breast cancer, BRCA, prognosis and survival. Nine articles were selected for systematic review and among them 6 were included in our meta-analysis. We used the fixed and random effect models to calculate the summary odds ratio (OR) and corresponding 95% confidence interval (CI). BRCA2 mutation carriers had significantly higher long-term OSR than non-carriers (OR=0.69 [95% CI=0.5-0.95]), while both short-term and long-term OSR of BRCA2 mutation carriers did not differ from those of patients with sporadic disease (OR=1.11 [95% CI=0.74-1.65]; 0.85 [95% CI=0.38-1.94], respectively). For BC-specific survival rate (BCSSR), BRCA2 mutation carriers had a similar BCSSR to the non-carriers (OR=0.61 [95% CI=0.28-1.34]). There was no significant difference in disease-free survival (DFS) between BRCA2 mutation carriers and patients with sporadic disease. Our results suggest that BRCA2 mutation increases long-term OSR in hereditary BC, which reminds us a new prospect of management of the disease.
Subject(s)
Female , Humans , BRCA2 Protein , Genetics , Breast Neoplasms , Genetics , Mortality , Pathology , Gene Expression , Genetic Counseling , Genetic Predisposition to Disease , Mutation , Odds Ratio , Prognosis , Survival AnalysisABSTRACT
For women with a BRCA 1/2 mutation, prophylactic bilateral salpingo-oophorectomy (BSO) is known to reduce the risk of developing both ovarian and breast cancer. The increasing interest in hereditary breast cancer has recently resulted in frequent genetic testing for high-risk patients. Since breast surgeons frequently encounter BRCA-positive breast cancer patients or carriers in the outpatient clinic, it is a prerequisite that the decision of the patients and doctors should be based on a thorough understanding of the objective risk, the medical assessment and the various treatment options, including surgery and anti-cancer therapy. The risk for the ovarian cancer also makes up an important part of genetic counseling; therefore, the breast surgeons should be well aware of this. This report presents the first experience with performing single-port access laparoscopic prophylactic BSO for a BRCA-positive breast cancer patient, and this procedure was technically feasible and the patient had minimal scar. However, a future investigation is needed to properly assess the cosmetic outcome in this approach.
Subject(s)
Female , Humans , Ambulatory Care Facilities , Breast , Breast Neoplasms , Cicatrix , Cosmetics , Genetic Testing , Laparoscopy , Ovarian NeoplasmsABSTRACT
In women at high-risk for breast cancer with a BRCA mutation, bilateral prophylactic mastectomy (BPM) may achieve a risk reduction. A 35-year-old woman had a strong family history of breast and ovarian cancer. She had a regular checkup and found masses in both breasts that confirmed intraductal papillomas and atypical ductal hyperplasia after vacuum assisted mass excision. When she was referred to our clinic, the genetic testing for BRCA mutation was recommended to her sister that managed for ovarian cancer. It was resulted in the positive for the BRCA2 mutation, so she had checked the genetic testing which resulted in the same as the mutation. After sufficient counseling, she decided to undergo BPM and immediate reconstruction. She is satisfied with the result of surgery. This is the first report of BPM of asymptomatic BRCA2 mutation carrier in Korea and BPM should be considered as a risk-reducing option for BRCA mutation carriers.