Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers
| Autor: | Julie Wissely, Elaine F. Harkness, D. Gareth Evans, Richard J. Edmondson, Anthony Howell, Ruta Marcinkute, Ashu Gandhi, John D. Murphy, Cathrine Holland, Emma R. Woodward, Lester Barr, Richard D Clayton, James Harvey, Emma J Crosbie, Lindsay Highton, Fiona Lalloo, Sacha J Howell |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Oncology Heterozygote medicine.medical_specialty Adolescent Risk reducing mastectomy Genes BRCA2 Genes BRCA1 Salpingo-oophorectomy Breast Neoplasms/genetics Risk Assessment Ovarian Neoplasms/genetics Young Adult 03 medical and health sciences 0302 clinical medicine Breast cancer Internal medicine Genetics medicine Humans Prospective Studies Genetics (clinical) Aged Aged 80 and over Risk reducing surgery 030219 obstetrics & reproductive medicine Manchester Cancer Research Centre business.industry Proportional hazards model ResearchInstitutes_Networks_Beacons/mcrc Incidence (epidemiology) Prophylactic Surgical Procedures Middle Aged medicine.disease Prophylactic Mastectomy Cancer incidence 030220 oncology & carcinogenesis Population study Female business Ovarian cancer Follow-Up Studies |
| Zdroj: | Marcinkute, R, Woodward, E, Gandhi, A, Howell, S, Crosbie, E, Wisely, J, Harvey, J, Highton, L, Murphy, J, Holland, C, Edmondson, R, Clayton, R D, Barr, L, Harkness, E, Howell, T, Lalloo, F & Evans, D G 2022, ' Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers ', Journal of Medical Genetics, vol. 59, no. 2, pp. 133-140 . https://doi.org/10.1136/jmedgenet-2020-107356 |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmedgenet-2020-107356 |
| Popis: | BackgroundWomen testing positive for BRCA1/2 pathogenic variants have high lifetime risks of breast cancer (BC) and ovarian cancer. The effectiveness of risk reducing surgery (RRS) has been demonstrated in numerous previous studies. We evaluated long-term uptake, timing and effectiveness of risk reducing mastectomy (RRM) and bilateral salpingo-oophorectomy (RRSO) in healthy BRCA1/2 carriers.MethodsWomen were prospectively followed up from positive genetic test (GT) result to censor date. χ² testing compared categorical variables; Cox regression model estimated HRs and 95% CI for BC/ovarian cancer cases associated with RRS, and impact on all-cause mortality; Kaplan-Meier curves estimated cumulative RRS uptake. The annual cancer incidence was estimated by women-years at risk.ResultsIn total, 887 women were included in this analysis. Mean follow-up was 6.26 years (range=0.01–24.3; total=4685.4 women-years). RRS was performed in 512 women, 73 before GT. Overall RRM uptake was 57.9% and RRSO uptake was 78.6%. The median time from GT to RRM was 18.4 months, and from GT to RRSO–10.0 months. Annual BC incidence in the study population was 1.28%. Relative BC risk reduction (RRM versus non-RRM) was 94%. Risk reduction of ovarian cancer (RRSO versus non-RRSO) was 100%.ConclusionOver a 24-year period, we observed an increasing number of women opting for RRS. We showed that the timing of RRS remains suboptimal, especially in women undergoing RRSO. Both RRM and RRSO showed a significant effect on relevant cancer risk reduction. However, there was no statistically significant RRSO protective effect on BC. |
| Databáze: | OpenAIRE |
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