Volume 17 Supplement 1

British Society of Breast Radiology Annual Scientific Meeting 2015

Open Access

A review of BRCA gene carrier demographics in Wales

  • Tom Evans1,
  • Jenny Long1,
  • Georgina Devenish1, 2,
  • Mike Lewis3,
  • Damian Bailey3,
  • Kate Gower Thomas2, 3 and
  • Alexandra Murray1, 4
Breast Cancer Research201517(Suppl 1):P21


Published: 5 November 2015


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
Breast Test Wales
University of South Wales
All Wales Genetics Service


© 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 (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.