ArticleBreast cancer research and treatment2011
Relative contributions of BRCA1 and BRCA2 mutations to "triple-negative" breast cancer in Ashkenazi Women.
Article in Breast cancer research and treatment, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.
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Who cites it
48 citing papers in PubMed, 3 syntheses or guidelines pooled it, 103 citations in OpenAlex.
- Abrupt involution induces inflammation, estrogenic signaling, and hyperplasia linking lack of breastfeeding with increased risk of breast cancer.Breast cancer research : BCR · 2019Pooled it
- Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cancer: a meta-analysis.BioMed research international · 2015Pooled it
- Meta-analysis on the association between pathologic complete response and triple-negative breast cancer after neoadjuvant chemotherapy.World journal of surgical oncology · 2014Pooled it
- Global patterns and risk factors of breast cancer in women under 35: a population-based study.Breast (Edinburgh, Scotland) · 2026Article
- Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-DependentCancers · 2025Article
- Constitutional Epimutations: From Rare Events Toward Major Cancer Risk Factors?JCO precision oncology · 2025Review
- Immunotherapy and its racial specificity for breast cancer treatment in Asia: a narrative review.The Lancet regional health. Western Pacific · 2025Review
- FLT1 activation in cancer cells promotes PARP-inhibitor resistance in breast cancer.EMBO molecular medicine · 2024Article
- APIR: Aggregating Universal Proteomics Database Search Algorithms for Peptide Identification with FDR Control.Genomics, proteomics & bioinformatics · 2024Article
- ConstitutionalHuman mutation · 2024Review
- Triple-Negative Breast Cancer: Histopathologic Features, Genomics, and Treatment.Radiographics : a review publication of the Radiological Society of North America, Inc · 2023Article
- Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype.Breast cancer research and treatment · 2022Article
- Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.Molecular biology reports · 2022Article
- Determinants of Response to Talazoparib in Patients with HER2-Negative, Germline BRCA1/2-Mutated Breast Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- High Expression of G6PD Increases Doxorubicin Resistance in Triple Negative Breast Cancer Cells by Maintaining GSH Level.International journal of biological sciences · 2022Article
- Molecular and Clinical Significance of Stanniocalcin-1 Expression in Breast Cancer Through Promotion of Homologous Recombination-Mediated DNA Damage Repair.Frontiers in cell and developmental biology · 2021Article
- Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Article
- Economic Evaluation of Population-BasedCancers · 2020Article
- Using Phosphatidylinositol Phosphorylation as Markers for Hyperglycemic Related Breast Cancer.International journal of molecular sciences · 2020Article
- The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.Molecular genetics & genomic medicine · 2019Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Approximately 10% of Ashkenazi Jewish (AJ) women with breast cancer (BC) carry a founder mutation in BRCA1 or BRCA2. There is an association between BRCA1 mutations and "triple-negative" breast cancer (TNBC) [estrogen receptor (ER) and progesterone receptor (PR) negative, HER2 negative]. We sought to determine the predictive value of the TNBC phenotype for the presence of a BRCA mutation in AJ women ascertained without respect to family history. DNA samples were collected between 8/2000 and 6/2004 from a prevalent cohort of unselected AJ women with breast cancer (median age at diagnosis 56 years). Samples (n = 451) were genotyped for AJ founder mutations. 352 (78.0%) cancers were ER positive, 254 (56.3%) PR positive, and 91 (20.2%) ER negative/PR negative. 63 (14.0%) cancers were HER2 positive (immunohistochemistry 3+ or FISH >2.2). TNBC was observed in 64 patients (14.2%). Founder mutations were detected in 48 samples (10.6%) including 25/64 TNBC (39.1%; 19 BRCA1, 6 BRCA2). Among TNBC patients with family history (FH) information, 6/15 (40%) mutations were found in women without breast or ovarian cancer in a close relative. The positive predictive value of TNBC for a BRCA1 mutation was 30% overall, 50% in women diagnosed<50 years, and 14% in women diagnosed ≥50. TNBC was significantly associated with detecting a mutation in either BRCA1 or BRCA2, but only 25/52 (48%) mutation-associated cancers were TNBC. The prevalence of BRCA founder mutations exceeds 50% in subsets of AJ women with TNBC. FH is an imperfect predictor of mutation status in this group. A significant number of mutation-associated TNBC are due to BRCA2.
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