Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers
Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers
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.
BRCA, breast cancer, epidemiology, multifocal, mutation, pathology, prevalence
146-153
McCrorie, Alan D.
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Ashfield, Susannah
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Begley, Aislinn
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Mcilmunn, Colin
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Morrison, Patrick J.
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Boyd, Clinton
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Eccles, Bryony
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Greville-Heygate, Stephanie
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Copson, Ellen
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Cutress, Ramsey
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Eccles, Diana
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Savage, Kienan I.
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McIntosh, Stuart A.
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1 April 2020
McCrorie, Alan D.
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Ashfield, Susannah
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Begley, Aislinn
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Mcilmunn, Colin
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Morrison, Patrick J.
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Boyd, Clinton
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Eccles, Bryony
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Greville-Heygate, Stephanie
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Copson, Ellen
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Cutress, Ramsey
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Eccles, Diana
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Savage, Kienan I.
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McIntosh, Stuart A.
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McCrorie, Alan D., Ashfield, Susannah, Begley, Aislinn, Mcilmunn, Colin, Morrison, Patrick J., Boyd, Clinton, Eccles, Bryony, Greville-Heygate, Stephanie, Copson, Ellen, Cutress, Ramsey, Eccles, Diana, Savage, Kienan I. and McIntosh, Stuart A.
(2020)
Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.
The Journal of Pathology: Clinical Research, 6 (2), .
(doi:10.1002/cjp2.155).
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.
Text
BRCA multifocality_r2.0_22_11_19
- Accepted Manuscript
More information
Accepted/In Press date: 15 December 2019
e-pub ahead of print date: 5 February 2020
Published date: 1 April 2020
Additional Information:
Funding Information:
Funding for the POSH study has been provided by the Wessex Cancer Trust, Cancer Research UK (C1275/A7572, C22524, A11699, A19187), and Breast Cancer Now (2005Nov53). SGH is funded by a research fellowship from the Health Education England Genomics Education Programme (HEE GEP).
Publisher Copyright:
© 2020 The Authors. The Journal of Pathology: Clinical Research published by The Pathological Society of Great Britain and Ireland and John Wiley & Sons Ltd.
Keywords:
BRCA, breast cancer, epidemiology, multifocal, mutation, pathology, prevalence
Identifiers
Local EPrints ID: 436746
URI: http://eprints.soton.ac.uk/id/eprint/436746
ISSN: 2056-4538
PURE UUID: e5bef2a9-9ba1-41f7-bdac-75ad91606856
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Date deposited: 03 Jan 2020 17:30
Last modified: 17 Mar 2024 05:10
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Contributors
Author:
Alan D. McCrorie
Author:
Susannah Ashfield
Author:
Aislinn Begley
Author:
Colin Mcilmunn
Author:
Patrick J. Morrison
Author:
Clinton Boyd
Author:
Bryony Eccles
Author:
Stephanie Greville-Heygate
Author:
Kienan I. Savage
Author:
Stuart A. McIntosh
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