RESUMEN
OBJECTIVE: Risk-reducing salpingo-oophorectomy (RRSO) is the only effective surgical strategy to reduce the increased risk of epithelial ovarian cancer in BRCA1/2 mutation carriers. Given the long-term health consequences of premature surgical menopause, we need insight in uptake and timing of RRSO to guide us in improving healthcare. METHODS: A single-center retrospective cohort study of BRCA1/2 mutation carriers diagnosed and counseled at the multidisciplinary Family Cancer Clinic of the Radboud university medical center in Nijmegen, The Netherlands, between 1999 and 2014. Descriptive statistics were used to analyze uptake and timing of RRSO. RESULTS: Data of 580 BRCA1/2 were analyzed. The uptake of RRSO among mutation carriers who are currently above the upper limit of the recommended age for RRSO, is 98.5% and 97.5% for BRCA1 and BRCA2 mutation carriers, respectively. The vast majority undergoes RRSO ≤40 (BRCA1) or ≤45 (BRCA2) years of age, provided that mutation status is known by that age: 90.8% and 97.3% of BRCA1 and BRCA2 mutation carriers, respectively. CONCLUSIONS: The uptake of RRSO among BRCA1/2 mutation carriers who were counseled at our Family Cancer Clinic is extremely high. High uptake might be largely attributed to the directive and uniform way of counseling by professionals at our Family Cancer Clinic. Given the fact that RRSO is often undergone at premenopausal age in our population, future research should focus on minimizing long-term health consequences of premature surgical menopause either by optimization of hormone replacement therapy or by investigating alternative strategies to RRSO.
Asunto(s)
Genes BRCA1 , Genes BRCA2 , Heterocigoto , Mutación , Neoplasias Glandulares y Epiteliales/prevención & control , Neoplasias Ováricas/prevención & control , Ovariectomía , Salpingectomía , Adolescente , Adulto , Anciano , Carcinoma Epitelial de Ovario , Femenino , Humanos , Persona de Mediana Edad , Neoplasias Glandulares y Epiteliales/genética , Neoplasias Ováricas/genética , Estudios Retrospectivos , Conducta de Reducción del RiesgoRESUMEN
BRCA1/2 mutation carriers are at high risk of breast and ovarian cancer. The number of studies on non-cancer endpoints in BRCA1/2 mutation carriers is still limited. BRCA1/2 mutation carriers may be at higher cardiovascular risk due to early menopause after risk-reducing salpingo-oophorectomy and/or due to the potential cardiotoxic effects of breast cancer treatment (radiotherapy and chemotherapy). Moreover, BRCA genes have a role as a gatekeeper in cardiac function and structure, which may affect susceptibility to cardiac damage. Our goal is to review current knowledge of cardiovascular risk among BRCA1/2 mutation carriers.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Enfermedades Cardiovasculares/epidemiología , Predisposición Genética a la Enfermedad , Neoplasias de la Mama/complicaciones , Enfermedades Cardiovasculares/genética , Femenino , Humanos , Mutación , Factores de Riesgo , Conducta de Reducción del Riesgo , Salud de la MujerRESUMEN
BRCA1/2 mutation carriers have an elevated risk of developing breast and ovarian cancer at a relatively young age. Risk-reducing salpingo-oophorectomy is an established strategy to tremendously reduce the risk of ovarian cancer. It is recommended to perform this surgery at age 35-40 years (BRCA1) and at age 40-45 years (BRCA2) resulting in an early and abrupt menopause. BRCA1/2 mutation carriers are potentially at higher risk of cardiovascular diseases due to early surgical menopause, and cardiotoxic effects of adjuvant treatment for breast cancer. Furthermore, preliminary results of experimental studies suggest a possible causative function of the BRCA genes in cardiovascular risk. More research on cardiovascular health risks in BRCA1/2 mutation carriers is needed, especially in the field of cardio-oncology, requiring additional attention to potentially cumulative effects on cardiovascular risks in this specific group of women.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/complicaciones , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/genética , Mutación , Neoplasias Ováricas/complicaciones , Factores de Edad , Animales , Neoplasias de la Mama/genética , Neoplasias de la Mama/terapia , Enfermedades Cardiovasculares/complicaciones , Femenino , Predisposición Genética a la Enfermedad , Humanos , Menopausia , Neoplasias Ováricas/genética , Neoplasias Ováricas/terapia , Factores de RiesgoRESUMEN
Sling procedures are a widely proven treatment for stress urinary incontinence. The aim of this prospective study was to evaluate the effect of the transobturator tape on female sexual functioning. Fifty-four women treated for stress urinary incontinence with transobturator tape filled out self-administered questionnaires on quality of life, urinary incontinence, and sexual function prior to surgery and 6 weeks and 12 months postoperatively. Preoperatively, 40 women (78%) were sexually active. There were no significant postoperative changes regarding frequency of sexual activity, sexual desire, and problems with lubrication or orgasm. Preoperatively, 55% reported urinary leakage during sexual activity and after surgery 6.5%. Sexual satisfaction was significantly improved 6 weeks (p = 0.05) and 12 months (p = 0.03) postoperatively. Pain during or after sexual activity was declined, only one patient reported worsening of pain. The transobturator tape procedure has a positive effect on female sexual functioning by reducing urinary leakage and pain during or after sexual activity. It seems to improve the overall sexual satisfaction. Further research is warranted to support these preliminary findings.
