Tumour characteristics, survival and prognostic factors of hereditary breast cancer from BRCA2-, BRCA1- and non-BRCA1/2 families as compared to sporadic breast cancer cases
Abstract
Aim of the study Results on tumour characteristics and survival of hereditary breast cancer (BC), especially on BRCA2-associated BC, are inconclusive. The prognostic impact of the classical tumour and treatment factors in hereditary BC is insufficiently known.Methods We selected 103 BRCA2-, 223 BRCA1- and 311 non-BRCA1/2 BC patients (diagnosis 1980-2004) from the Rotterdam Family Cancer Clinic. To correct for longevity bias, analyses were also performed while excluding index patients undergoing DNA testing 2 years after BC diagnosis. As a comparison group, 759 sporadic BC patients of comparable age at and year of diagnosis were selected. We compared tumour characteristics, the occurrence of ipsilateral recurrence (LRR) and contralateral BC (CBC) as well as distant disease-free (DDFS), BC-specific (BCSS) and overall survival (OS) between these groups. By multivariate modelling, the prognostic impact of tumour and treatment factors was investigated separately in hereditary BC.Results We confirmed the presence of the particular BRCA1-phenotype. In contrast, tumour characteristics of BRCA2-associated BC were similar to those of non-BRCA1/2 and sporadic BC, with the exception of a high risk of CBC (3.1% per year) and oestrogen-receptor (ER)-positivity (83%). No significant differences between BRCA2-associated BC and other BC subgroups were found with respect to LRR, DDFS, BCSS and OS. Independent prognostic factors for BC-specific survival in hereditary BC (combining the three subgroups) were tumour stage, adjuvant chemotherapy, histologic grade, ER status and a prophylactic (salpingo-)oophorectomy.Conclusions Apart from the frequent occurrence of contralateral BC and a positive ER-status, BRCA2-associated BC did not markedly differ from other hereditary or sporadic BC. Our observation that tumour size and nodal status are prognostic factors also in hereditary BC implies that the strategy to use these factors as a proxy for ultimate mortality appears to be valid also in this specific group of patients.
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The recurrence rate in BRCA1/BRCA2 carriers is not increased in this population of patients.
“We and other authors demonstrated that the recurrence rate in BRCA1/BRCA2 carriers is not increased in this population of patients [28-32].”
From Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature (2010) · cites this paper as [31]
The more recent publication by Brekelmans et al. showed no difference in ipsilateral breast recurrence between carriers and controls (P = 0.6).
“The more recent publication of the same team reported by Brekelmans et al. [31] showed no difference in term of ipsilateral breast recurrence, P = 0.6 between carriers and controls.”
From Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature (2010) · cites this paper as [31]
The safety of BCT in BRCA mutation carriers is a matter of debate.
“However, its safety in BRCA mutation carriers is a matter of debate, and several studies have compared ipsilateral tumour recurrence after breast-conserving treatment (BCT) in BRCA1 and BRCA2 mutation carriers and patients with sporadic cancers [9, 28-32, 37-41].”
From Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature (2010) · cites this paper as [31]
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- Authors
- Brekelmans, C. T. M., Tilanus-Linthorst, M. M. A., Seynaeve, C., vd Ouweland, A., Menke-Pluymers, M. B. E., Bartels, C. C. M., Kriege, M., van Geel, A. N., Burger, C. W., Eggermont, A. M. M., Meijers-Heijboer, H., & Klijn, J. G. M.
- Affiliations
- Erasmus MC Cancer Institute (NL)
- Venue
- European Journal of Cancer
- Publisher
- Elsevier BV
- Published
- 2007-03
- Volume
- 43
- Issue
- 5
- Pages
- 867-876
- ISSN
- 0959-8049 (ISSN-L)
- OpenAlex
- W2018022325
- Cited by
- 233
- References
- 33
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 8 · 2023: 5 · 2022: 7 · 2021: 12 · 2020: 14 · 2019: 15 · 2018: 11 · 2017: 11 · 2016: 7 · 2015: 16 · 2014: 18 · 2013: 20 · 2012: 14
- FWCI
- 8.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Cancer (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Breast Cancer Treatment Studies
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Keywords
- hereditary breast cancer, BRCA2, BRCA1, sporadic breast cancer, tumor characteristics, prognostic factors, survival, ipsilateral recurrence, contralateral breast cancer, estrogen receptor status, adjuvant chemotherapy, salpingo-oophorectomy, tumor stage, lymph node status, histologic grade, tumor size
- MeSH terms
- Adult, Aged, Breast Neoplasms, DNA, Neoplasm, Female, Humans, Middle Aged, Neoplasm Recurrence, Local, Pedigree, Prognosis, Cohort Studies, Chi-Square Distribution, Disease-Free Survival, Genes, BRCA1, Genes, BRCA2
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