1449PD - Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers

Date 01 October 2012
Event ESMO Congress 2012
Session Public health and familial cancer
Topics Breast Cancer
Aetiology, Epidemiology, Screening and Prevention
Hereditary Syndromes
Basic Scientific Principles
Presenter Elaine Walsh
Authors E. Walsh1, M. Farrell2, R. Clarke3, C. Nolan3, M..J. Kennedy4, J.A. McCaffrey5, E. Connolly6, M. Kell7, T. Boyle6, D. Gallagher8
  • 1Oncology Dept, Mater Misericordiae University Hospital University College Dublin, 7 - Dublin/IE
  • 2Dept Cancer Genetics, Mater Misercordiae University Hospital & Mater Private, Dublin 7/IE
  • 3Dept Cancer Genetics, St James Hospital, Dublin 8/IE
  • 4St James's Hospital, IE-8 - Dublin/IE
  • 5Medical Oncology, Mater Misericordiae University Hospital, 7 - Dublin/IE
  • 6Dept Surgery, St James Hospital, Dublin 8/IE
  • 7Dept Surgery, Mater Misercordiae University Hospital, Dublin 7/IE
  • 8Dept Medical Oncology, Mater Misercordiae University Hospital & Mater Private, Dublin 7/IE



High-risk breast cancer screening for BRCA1/2 mutations carriers with clinical breast exam, mammography and MRI have sensitivities approaching 100%. Even with intensive screening, BRCA mutation carriers can present with self-detected interval cancers. We investigate breast cancer screening practices and presentation among a cohort of Irish BRCA1/2 mutation carriers.


Females with breast cancer belonging to kindreds now known to harbour BRCA1/2 mutations were retrospectively identified. Records were reviewed for BRCA mutation, demographics, breast cancer diagnosis, stage, histology and screening. We assessed screening modalities and whether breast cancers were diagnosed at screening or as interval cancers.


53 cases of breast cancer were diagnosed from 1968 to 2010 among 53 Irish hereditary breast ovarian cancer kindreds. BRCA mutation status was unknown at time of diagnosis but subsequently confirmed. Detection method was identified in 50% of patients: 84% by clinical breast exam (CBE), 4% by mammography, 4% by MRI and 8% by a combination of CBE and mammography. Fifteen women (28%) developed a second breast cancer; 9 (60%) were undergoing screening, 2 were not and 27% were unknown. Two cancers (22%) were detected by CBE alone; 34% by mammography; 22% by a combination of mammography and CBE and 22% by MRI. In 41%, histology changed between first and second diagnosis. Two women developed a third breast cancer. In one, the second was an interval cancer despite being in a screening programme. Her third was radiologically detected.


In this cohort of Irish BRCA1/2 mutation carriers almost 25% of second breast cancers were not detected by screening. 4% of cases were phenocopies and in 41% histology changed between first and second diagnosis.

Characteristic No. %
Total 63
1st Breast Cancer 53 84
Median Age Range 42 24–73
BRCA1 mutation 25 40
BRCA2 mutation 27 42
I 14 27
II 25 48
III 4 8
Unknown 9 17
Ductal 30 57
Other 10 19
Unknown 13 24
2nd Breast Cancer 15 28
Median Age Range 48 36–71
BRCA1 mutation 5 33
BRCA2 mutation 8 53
Stage I 8 53
Stage II 3 20
Stage III 3 20
Ductal 12 80
Other 2 13
3rd Breast Cancer 2 4
Median Age Range 54 53–55
BRCA2 mutation 2 100
I 1 50
III 1 50
Ductal 2 100


All authors have declared no conflicts of interest.