Multifocal breast cancers are more prevalent inBRCA2versusBRCA1mutation carriers
| Autor: | Patrick J. Morrison, Ellen Copson, Stephanie Greville-Heygate, Colin McIlmunn, Kienan I. Savage, Susannah Ashfield, Bryony Eccles, Clinton Boyd, Ramsey I. Cutress, Alan D McCrorie, Stuart McIntosh, Aislinn Begley, Diana Eccles |
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| Rok vydání: | 2019 |
| Předmět: |
Oncology
medicine.medical_specialty multifocal endocrine system diseases medicine.medical_treatment BRCA prevalence Breast Neoplasms Mastectomy Segmental Pathology and Forensic Medicine Cohort Studies breast cancer Breast cancer SDG 3 - Good Health and Well-being Internal medicine Epidemiology lcsh:Pathology medicine Breast-conserving surgery Humans Genetic Predisposition to Disease Breast skin and connective tissue diseases Brca1 gene BRCA2 Protein BRCA1 Protein Breast surgeons business.industry Tumour focality Breast tumours Cancer Original Articles Odds ratio medicine.disease Cross-Sectional Studies Cohort Female Original Article epidemiology pathology mutation business lcsh:RB1-214 |
| Zdroj: | 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, vol. 6, no. 2, pp. 146-153 . https://doi.org/10.1002/cjp2.155 The Journal of Pathology: Clinical Research, Vol 6, Iss 2, Pp 146-153 (2020) The Journal of Pathology: Clinical Research |
| DOI: | 10.1101/19006478 |
| Popis: | 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 ofBRCA1/2mutation carriers with breast cancer from Northern Ireland via cross-sectional analysis. Data from 211 women withBRCA1/2mutations (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 amongstBRCA2carriers was more than double that ofBRCA1carriers (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 aBRCA2carrier developing multifocal/multicentric cancer were almost four-fold higher than aBRCA1carrier (OR: 3.71, CI: 1.77-7.78, p=0.001). These findings were subsequently validated in a second, large independent cohort of patients withBRCA-associated breast cancers from a UK-wide multicentre study. This confirmed a significantly higher prevalence of multifocal/multicentric tumours amongstBRCA2mutation carriers compared withBRCA1mutation 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. |
| Databáze: | OpenAIRE |
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