Crynodeb
Introduction: Women who inherit a mutated copy of the BRCA-1 or BRCA-2 genes have a higher lifetime risk of developing breast cancer. There have been no large epidemiological studies looking at BRCA-positive patients in the UK.
Methods: Across the All Wales Genetics Service, individuals with
confirmed BRCA mutation, since formal testing began (1995) to 1 January 2015, were included–identified from a prospectively gathered database. Genetics case notes were obtained and retrospective analysis carried out.
Results: A total of 419 females with mean age 47 (19−81) were included in the study. Of these, 206 were identified using diagnostic testing with the remaining 213 undergoing predictive testing. Of the predictive group who subsequently had cancer, 18 (78 %) developed breast cancer. Seven (39 %) had wide local excision (WLE), six (33 %) had single mastectomy while the remaining five (28 %) had bilateral mastectomies as their
primary operation. Five of the predictive group (22 %) had ovarian
cancer. Of these, four (80 %) went on to have prophylactic breast surgery too. Of the 13 patients who underwent WLE or single mastectomy, four (31 %) went on to have completion risk reduction mastectomies (RRM). From the remaining 190 individuals in the predictive group with no cancer diagnosis, 102 (54 %) have had no risk reduction surgery, 32 (17 %) RRM only, 31 (16 %) BSO only and 25 (13 %) underwent both
procedures.
Conclusion: There is variation in the surgical management of BRCA-positive patients in Wales. This has implications for service allocation and demands for screening for these high-risk patients.
Methods: Across the All Wales Genetics Service, individuals with
confirmed BRCA mutation, since formal testing began (1995) to 1 January 2015, were included–identified from a prospectively gathered database. Genetics case notes were obtained and retrospective analysis carried out.
Results: A total of 419 females with mean age 47 (19−81) were included in the study. Of these, 206 were identified using diagnostic testing with the remaining 213 undergoing predictive testing. Of the predictive group who subsequently had cancer, 18 (78 %) developed breast cancer. Seven (39 %) had wide local excision (WLE), six (33 %) had single mastectomy while the remaining five (28 %) had bilateral mastectomies as their
primary operation. Five of the predictive group (22 %) had ovarian
cancer. Of these, four (80 %) went on to have prophylactic breast surgery too. Of the 13 patients who underwent WLE or single mastectomy, four (31 %) went on to have completion risk reduction mastectomies (RRM). From the remaining 190 individuals in the predictive group with no cancer diagnosis, 102 (54 %) have had no risk reduction surgery, 32 (17 %) RRM only, 31 (16 %) BSO only and 25 (13 %) underwent both
procedures.
Conclusion: There is variation in the surgical management of BRCA-positive patients in Wales. This has implications for service allocation and demands for screening for these high-risk patients.
| Iaith wreiddiol | Saesneg |
|---|---|
| Rhif yr erthygl | P21 |
| Nifer y tudalennau | 2 |
| Cyfnodolyn | Breast Cancer Research |
| Cyfrol | 17 |
| Dynodwyr Gwrthrych Digidol (DOIs) | |
| Statws | Cyhoeddwyd - 5 Tach 2015 |
| Digwyddiad | Annual Scientific Meeting of the British-Society-of-Breast-Radiology - Nottingham Hyd: 9 Tach 2015 → 11 Tach 2015 |
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