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  • Open Access

A review of BRCA gene carrier demographics in Wales

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Breast Cancer Research201517 (Suppl 1) :P21

  • Published:


  • Ovarian Cancer
  • BRCA Mutation
  • BRCA Gene
  • Develop Breast Cancer
  • Wide Local Excision


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.


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.


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.


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.

Authors’ Affiliations

Cardiff and Vale University Health Board, Cardiff, UK
Breast Test Wales, Cardiff, UK
University of South Wales, Pontypridd, UK
All Wales Genetics Service, Cardiff, UK


© Evans et al.; 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.