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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 breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers
Multifocal/multicentric 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), with 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 multifocal/multicentric 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. Odds of a BRCA2 carrier developing multifocal/multicentric cancer were almost four-fold higher than a BRCA1 carrier (OR: 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 multifocal/multicentric 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
2056-4538
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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McCrorie, Alan D.
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Ashfield, Susannah
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Begley, Aislinn
5d0351cd-3059-45fa-812c-d00d0dc619a3
Mcilmunn, Colin
217d5985-55e6-4fa4-bf69-3cfd2184977d
Morrison, Patrick J.
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Boyd, Clinton
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Eccles, Bryony
57ff1cdf-577d-421d-8f35-b12b8d1c2030
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), 146-153. (doi:10.1002/cjp2.155).

Record type: Article

Abstract

Multifocal/multicentric 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), with 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 multifocal/multicentric 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. Odds of a BRCA2 carrier developing multifocal/multicentric cancer were almost four-fold higher than a BRCA1 carrier (OR: 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 multifocal/multicentric 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.

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BRCA multifocality_r2.0_22_11_19 - Accepted Manuscript
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Accepted/In Press date: 15 December 2019
e-pub ahead of print date: 5 February 2020
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
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

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Date deposited: 03 Jan 2020 17:30
Last modified: 26 Nov 2021 06:31

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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: Ellen Copson
Author: Ramsey Cutress
Author: Diana Eccles ORCID iD
Author: Kienan I. Savage
Author: Stuart A. McIntosh

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