Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers

Alan D. McCrorie, Susannah Ashfield, Aislinn Begley, Colin Mcilmunn, Patrick J. Morrison, Clinton Boyd, Bryony Eccles, Stephanie Greville-Heygate, Ellen R. Copson, Ramsey I. Cutress, Diana M. Eccles, Kienan I. Savage, Stuart A. McIntosh*

*Corresponding author for this work

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Abstract

Multifocal (MF)/multicentric (MC) breast cancer is generally considered to be where two or more breast tumours are present within the same breast, and is seen in ~10% of breast cancer cases. This study investigates the prevalence of multifocality/multicentricity in a cohort of BRCA1/2 mutation carriers with breast cancer from Northern Ireland via cross-sectional analysis. Data from 211 women with BRCA1/2 mutations (BRCA1-91, BRCA2-120) and breast cancer were collected including age, tumour focality, size, type, grade and receptor profile. The prevalence of multifocality/multicentricity within this group was 25% but, within subgroups, prevalence amongst BRCA2 carriers was more than double that of BRCA1 carriers (p = 0.001). Women affected by MF/MC tumours had proportionately higher oestrogen receptor positivity (p = 0.001) and lower triple negativity (p = 0.004). These observations are likely to be driven by the higher BRCA2 mutation prevalence observed within this cohort. The odds of a BRCA2 carrier developing MF/MC cancer were almost four-fold higher than a BRCA1 carrier (odds ratio: 3.71, CI: 1.77–7.78, p = 0.001). These findings were subsequently validated in a second, large independent cohort of patients with BRCA-associated breast cancers from a UK-wide multicentre study. This confirmed a significantly higher prevalence of MF/MC tumours amongst BRCA2 mutation carriers compared with BRCA1 mutation carriers. This has important implications for clinicians involved in the treatment of BRCA2-associated breast cancer, both in the diagnostic process, in ensuring that tumour focality is adequately assessed to facilitate treatment decision-making, and for breast surgeons, particularly if breast conserving surgery is being considered as a treatment option for these patients.

Original languageEnglish
Number of pages8
JournalJournal of Pathology: Clinical Research
Early online date05 Feb 2020
DOIs
Publication statusEarly online date - 05 Feb 2020

Keywords

  • BRCA
  • breast cancer
  • epidemiology
  • multifocal
  • mutation
  • pathology
  • prevalence

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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    McCrorie, A. D., Ashfield, S., Begley, A., Mcilmunn, C., Morrison, P. J., Boyd, C., Eccles, B., Greville-Heygate, S., Copson, E. R., Cutress, R. I., Eccles, D. M., Savage, K. I., & McIntosh, S. A. (2020). Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers. Journal of Pathology: Clinical Research. https://doi.org/10.1002/cjp2.155