ArticleBreast cancer research : BCR2004
A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment.
Article in Breast cancer research : BCR, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 3 of them syntheses that pooled it.
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Who cites it
103 citing papers in PubMed, 3 syntheses or guidelines pooled it, 317 citations in OpenAlex.
- Association between BRCA mutational status and survival in patients with breast cancer: a systematic review and meta-analysis.Breast cancer research and treatment · 2021Pooled it
- BRCA mutations and survival in breast cancer: an updated systematic review and meta-analysis.Oncotarget · 2016Pooled it
- Worse breast cancer prognosis of BRCA1/BRCA2 mutation carriers: what's the evidence? A systematic review with meta-analysis.PloS one · 2015Pooled it
- Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.Breast cancer research and treatment · 2018Trial
- Impact of homologous recombination deficiency biomarkers on outcomes in patients with triple-negative breast cancer treated with adjuvant doxorubicin and cyclophosphamide (SWOG S9313).Annals of oncology : official journal of the European Society for Medical Oncology · 2018Trial
- Targeting Key Molecular Mechanisms in Triple-Negative Breast Cancer Therapies with Natural Compounds.Current pharmaceutical design · 2026Review
- Carcinogenic form and characteristics of BRCA pathogenic variant breast cancer.International journal of clinical oncology · 2025Review
- Update Breast Cancer 2024 Part 2 - Patients with Early Stage Breast Cancer.Geburtshilfe und Frauenheilkunde · 2025Article
- Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.JAMA network open · 2024Article
- Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.BMC medicine · 2024Article
- Article
- Is Breast Conserving Surgery Efficacious in Breast Cancer Patients withBreast cancer (Dove Medical Press) · 2023Article
- Effectiveness of Secondary Risk-Reducing Strategies in Patients With Unilateral Breast Cancer With Pathogenic Variants of BRCA1 and BRCA2 Subjected to Breast-Conserving Surgery: Evidence-Based Simulation Study.JMIR formative research · 2022Article
- Article
- Chemotherapy Regimens Received by Women With BRCA1/2 Pathogenic Variants for Early Stage Breast Cancer Treatment.JNCI cancer spectrum · 2022Article
- Article
- Association of Genetic Testing Results With Mortality Among Women With Breast Cancer or Ovarian Cancer.Journal of the National Cancer Institute · 2022Article
- Outcomes After Breast Radiation Therapy in a Diverse Patient Cohort With a Germline BRCA1/2 Mutation.International journal of radiation oncology, biology, physics · 2022Article
- Surgical Management of Hereditary Breast Cancer.Genes · 2021Review
- Identification of combinations of somatic mutations that predict cancer survival and immunotherapy benefit.NAR cancer · 2021Article
43 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe prognostic significance of germline mutations in BRCA1 and BRCA2 in women with breast cancer remains unclear. A combined analysis was performed to address this uncertainty.
methodsTwo retrospective cohorts of Ashkenazi Jewish women undergoing breast-conserving treatment for invasive cancer between 1980 and 1995 (n = 584) were established. Archived tissue blocks were used as the source of DNA for Ashkenazi Jewish BRCA1/BRCA2 founder mutation analysis. Paraffin-embedded tissue and follow-up information was available for 505 women.
resultsGenotyping was successful in 496 women, of whom 56 (11.3%) were found to carry a BRCA1/BRCA2 founder mutation. After a median follow-up period of 116 months, breast cancer specific survival was worse in women with BRCA1 mutations than in those without (62% at 10 years versus 86%; P < 0.0001), but not in women with the BRCA2 mutation (84% versus 86% at 10 years; P = 0.76). Germline BRCA1 mutations were an independent predictor of breast cancer mortality in multivariate analysis (hazard ratio 2.4, 95% confidence interval 1.2-4.8; P = 0.01). BRCA1 status predicted breast cancer mortality only among women who did not receive chemotherapy (hazard ratio 4.8, 95% confidence interval 2.0-11.7; P = 0.001). The risk for metachronous ipsilateral cancer was not greater in women with germline BRCA1/BRCA2 founder mutations than in those without mutations (P = 0.68).
conclusionBRCA1 mutations, but not BRCA2 mutations, are associated with reduced survival in Ashkenazi women undergoing breast-conserving treatment for invasive breast cancer, but the poor prognosis associated with germline BRCA1 mutations is mitigated by adjuvant chemotherapy. The risk for metachronous ipsilateral disease does not appear to be increased for either BRCA1 or BRCA2 mutation carriers, at least up to 10 years of follow up.
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