ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2012
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 330 papers, 3 of them syntheses that pooled it.
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330 citing papers in PubMed, 3 syntheses or guidelines pooled it, 655 citations in OpenAlex.
- PARP-inhibitors for BRCA1/2-related advanced HER2-negative breast cancer: A meta-analysis and GRADE recommendations by the Italian Association of Medical Oncology.Breast (Edinburgh, Scotland) · 2022Pooled it
- Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis.ESMO open · 2022Pooled it
- Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.Nature genetics · 2020Pooled it
- Neoadjuvant Talazoparib in Patients With Germline BRCA1/2 Mutation-Positive, Early-Stage Triple-Negative Breast Cancer: Results of a Phase II Study.The oncologist · 2023Trial
- How Does Dietary Intake Relate to Dispositional Optimism and Health-Related Quality of Life in GermlineNutrients · 2023Trial
- Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer.Annals of oncology : official journal of the European Society for Medical Oncology · 2022Trial
- Adjuvant Olaparib for Patients withThe New England journal of medicine · 2021Trial
- DCE-MRI and Mammography integrated radiomic analysis in triple negative ductal invasive breast cancer patients. Comparison between BRCA and not BRCA mutated patients: preliminary results.European journal of radiology open · 2026Article
- Clinical impact of ENIGMA-based variant reclassification on genotype-phenotype analyses in BRCA1- and BRCA2-associated hereditary breast and ovarian cancer.Breast cancer (Tokyo, Japan) · 2026Article
- Multilocus inherited neoplasia alleles syndrome: a retrospective review from a Canadian single institution.European journal of human genetics : EJHG · 2026Article
- Comparative analysis of distinct genomic landscapes in young-onset gBRCA1/2 breast cancer.JCI insight · 2026Article
- Article
- Review
- Bilateral risk reducing mastectomy uptake trends in healthy BRCA1/2 mutation carriers of an European City, the brachoice study.World journal of surgical oncology · 2026Article
- Germline Pathogenic Variants in HER2-Positive Breast Cancer: Spectrum and Clinical Implications in a High-Risk Chinese Cohort.Cancer medicine · 2026Article
- Is Genetic Testing of HER2-Negative Metastatic Breast Cancer Patients Implemented into Clinical Practice? A Retrospective Analysis.Journal of clinical medicine · 2026Article
- Estrogen receptor-positive, BRCA1-deficient breast cancer: BRCA1-epimutated tumors presenting a piece to the puzzle.Breast cancer research : BCR · 2026Review
- Invasive ductal and lobular carcinoma and receptor status in the genetic context of breast cancer.Scientific reports · 2026Article
- Gene-Specific Outcomes After Central Nervous System Metastases in Germline BRCA1- and BRCA2-Associated Breast Cancer.Cancers · 2026Article
- Transcriptomic deconvolution reveals prognostic immune signatures and immunotherapy-responsive subtypes in male breast cancer.Breast cancer research : BCR · 2026Article
270 more citing papers are in PubMed but not listed here.
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Authors and funding
139 authors at 7 institutions in 8 countries.
Funding
Abstract
backgroundPreviously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization.
methodsWe used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers.
resultsThere was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 × 10(-5)), but increased with age at diagnosis among BRCA2, carriers (P-trend = 6.8 × 10(-6)). The proportion of triple-negative tumors decreased with age at diagnosis in BRCA1 carriers but increased with age at diagnosis of BRCA2 carriers. In both BRCA1 and BRCA2 carriers, ER-negative tumors were of higher histologic grade than ER-positive tumors (grade 3 vs. grade 1; P = 1.2 × 10(-13) for BRCA1 and P = 0.001 for BRCA2). ER and progesterone receptor (PR) expression were independently associated with mutation carrier status [ER-positive odds ratio (OR) for BRCA2 = 9.4, 95% CI: 7.0-12.6 and PR-positive OR = 1.7, 95% CI: 1.3-2.3, under joint analysis]. Lobular tumors were more likely to be BRCA2-related (OR for BRCA2 = 3.3, 95% CI: 2.4-4.4; P = 4.4 × 10(-14)), and medullary tumors BRCA1-related (OR for BRCA2 = 0.25, 95% CI: 0.18-0.35; P = 2.3 × 10(-15)). ER-status of the first breast cancer was predictive of ER-status of asynchronous contralateral breast cancer (P = 0.0004 for BRCA1; P = 0.002 for BRCA2). There were no significant differences in ovarian cancer morphology between BRCA1 and BRCA2 carriers (serous: 67%; mucinous: 1%; endometrioid: 12%; clear-cell: 2%). CONCLUSIONS/IMPACT: Pathologic characteristics of BRCA1 and BRCA2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis.
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