title: Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study.
abstract: BACKGROUND
  High-risk breast cancer screening for BRCA1/2 mutation carriers with clinical breast exam, mammography and MRI has reported sensitivity of 100 %, but BRCA1/2 mutation carriers still present with interval cancers.
  
  
  OBJECTIVE
  We investigated the presentation and screening patterns of an Irish cohort of BRCA1/2 mutation carriers with breast cancer.
  
  
  METHODS
  BRCA1/2 mutation carriers with breast cancer were identified in this retrospective cohort study. Records were reviewed for BRCA1/2 mutation status, demographics, screening regimen, screening modality, stage and histology at diagnosis.
  
  
  RESULTS
  Fifty-three cases of breast cancer were diagnosed between 1968 and 2010 among 60 Irish hereditary breast ovarian cancer (HBOC) families. In 50 of 53 women, the diagnosis of breast cancer predated the identification of BRCA1/2 mutations. Breast cancer detection method was identified in 47 % of patients (n = 25): 80 % (n = 20) by clinical breast exam (CBE), 12 % by mammography (n = 3), 8 % by MRI (n = 2). Fourteen women (26 %) developed a second breast cancer. Ten of these patients (71 %) were involved in regular screening; 50 % were detected by screening mammography, 20 % by MRI and 30 % by CBE alone. Six patients (43 %) had a change in morphology from first to second breast cancers. There was no change in hormone receptor status between first and second breast cancers.
  
  
  CONCLUSIONS
  In this cohort of Irish BRCA1/2 mutation carriers, compliance with screening was inconsistent. There was a 30 % incidence of interval cancers occurring in women in high-risk screening. Preventive surgery may be a more effective risk reduction strategy for certain high-risk women.
authors: Medical Oncology Department, Mater Misericordiae University Hospital, Dublin 7, Ireland. Elaine1walsh@gmail.com.
authors: E M
authors: EM
authors: Walsh
authors: Cancer Genetics Service, Mater Misericordiae and Mater Private Hospitals, Dublin 7, Ireland.
authors: M P
authors: MP
authors: Farrell
authors: Cancer Genetics Service, St. James's Hospital, Dublin 8, Ireland.
authors: C
authors: C
authors: Nolan
authors: Cancer Genetics Service, Mater Misericordiae and Mater Private Hospitals, Dublin 7, Ireland.|Cancer Genetics Service, St. James's Hospital, Dublin 8, Ireland.
authors: F
authors: F
authors: Gallagher
authors: Cancer Genetics Service, St. James's Hospital, Dublin 8, Ireland.
authors: R
authors: R
authors: Clarke
authors: Medical Oncology Department, Mater Misericordiae University Hospital, Dublin 7, Ireland.
authors: J A
authors: JA
authors: McCaffrey
authors: Medical Oncology Department, St James's Hospital, Dublin 8, Ireland.
authors: M J
authors: MJ
authors: Kennedy
authors: Surgery Department, Mater Misericordiae University Hospital, Dublin 7, Ireland.
authors: M
authors: M
authors: Barry
authors: Surgery Department, Mater Misericordiae University Hospital, Dublin 7, Ireland.
authors: M R
authors: MR
authors: Kell
authors: Cancer Genetics Service, Mater Misericordiae and Mater Private Hospitals, Dublin 7, Ireland.|Cancer Genetics Service, St. James's Hospital, Dublin 8, Ireland.
authors: D J
authors: DJ
authors: Gallagher
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics; D055088:Early Detection of Cancer / Q000379:methods*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006579:Heterozygote; D006801:Humans; D007494:Ireland; D008279:Magnetic Resonance Imaging; D008327:Mammography; D008875:Middle Aged; D009154:Mutation; D016609:Neoplasms, Second Primary / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics; D010349:Patient Compliance; D011960:Receptors, Estrogen / Q000032:analysis; D011980:Receptors, Progesterone / Q000032:analysis; D012189:Retrospective Studies; D013997:Time Factors; D055815:Young Adult
chemical_list: D011960:Receptors, Estrogen; D011980:Receptors, Progesterone
keywords: BRCA1/2 mutation; Breast cancer; Interval cancer; Screening