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Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1
Abstract
Background Hereditary breast cancer has been associated with mutations in the BRCA1 and BRCA2 genes and has a natural history different from sporadic breast cancer. We investigated disease-free and overall survival for patients with a proven BRCA1 alteration.Methods We estimated disease-free and overall survival for 49 Dutch patients from 19 consecutive families with a proven specific BRCA1 mutation and one family with strong evidence for linkage to the BRCA1 gene. We compared clinical outcome and data on tumour size, histology, axillary nodal status, contralateral breast cancer, and oestrogen-receptor and progesterone-receptor status with those of 196 patients with sporadic breast cancer, matched for age and year of diagnosis.Findings Disease-free survival for BRCA1 and sporadic patients at 5 years was 49% (95% CI 33-64) and 51% (43-59), respectively (p=0.98). Overall survival at 5 years was 63% (47-76) and 69% (62-76), respectively (p=0.88). Recurrence and death rates did not differ significantly between groups. Hazard ratios for recurrence and death among BRCA1 patients were 1.00 (0.65-1.55) and 1.04 (0.63-1.71) relative to sporadic patients (p=0.88), and these did not differ significantly after adjustment for prognostic factors. Patients with BRCA1-associated breast cancer had twice as many progesterone-receptor-negative tumours (p<0.005) and development of contralateral breast cancer was four to five times as frequent as in the sporadic group (p<0.001).Interpretation We showed that disease-free and overall survival were similar for sporadic and hereditary breast cancer in the presence of different tumour characteristics, which has implications for screening prophylactic therapy, and different treatments of hereditary breast cancer.
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“BRCA2 mutation carriers, on the contrary, present tumours with pathologic features similar to those of sporadic tumours [2-10].”
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 [6]
In the citing paper
“Several studies suggest that BRCA gene mutation might influence response to radiation therapy because tumours in BRCA1/BRCA2 carriers are more sensitive to ionising radiation [5-12].”
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 [6]
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Self-citation
Metadata
- Authors
- Verhoog, L., Brekelmans, C., Seynaeve, C., van den Bosch, L., Dahmen, G., van Geel, A., Tilanus-Linthorst, M., Bartels, C., Wagner, A., van den Ouweland, A., Devilee, P., Meijers-Heijboer, E., & Klijn, J.
- Affiliations
- Academisch Ziekenhuis Rotterdam (NL)
- Erasmus University Rotterdam (NL)
- Leiden University (NL)
- Corresponding author
- Klijn, JGM
- ORCID
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1998-01
- Volume
- 351
- Issue
- 9099
- Pages
- 316-321
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2137086763
- Cited by
- 452
- References
- 31
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 3 · 2023: 7 · 2022: 1 · 2021: 7 · 2020: 8 · 2019: 7 · 2018: 4 · 2017: 5 · 2016: 4 · 2015: 13 · 2014: 10 · 2013: 7 · 2012: 5
- FWCI
- 28.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- KWF Kankerbestrijding
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Breast Cancer Treatment Studies
- Keywords
- hereditary breast cancer, BRCA1 mutation, sporadic breast cancer, disease-free survival, overall survival, contralateral breast cancer, estrogen receptor status, tumor characteristics, tumor recurrence, breast cancer screening
- MeSH terms
- Adult, Aged, Breast Neoplasms, Female, Humans, Middle Aged, Prognosis, Risk, Odds Ratio, Survival Analysis, Germ-Line Mutation, Disease-Free Survival, Genes, BRCA1
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