ArticleNature communications2022
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Molecular signatures of breast cancer in the Iranian population: a review of cell growth and cell cycle regulators.Journal of cancer research and clinical oncology · 2025Pooled it
- Circulating Tumor DNA in Ovarian Cancer: Emerging Roles in Early Detection, Risk Stratification, and Disease Monitoring.Cancers · 2026Review
- Homologous recombination deficiency and hemizygosity drive resistance in breast cancer.Nature · 2026Article
- Tumor-to-endothelium mitochondrial transfer licenses endothelial cells for CD8bioRxiv : the preprint server for biology · 2026Article
- Multimodal deep learning using preoperative CT and ultrasound for recurrence risk prediction in high-grade serous ovarian carcinoma.BMC medical imaging · 2026Article
- Nonsense-mediated mRNA decay: a key regulatory system engaged in cancer.Cell communication and signaling : CCS · 2025Review
- Characterization of Parthanatos in Breast Cancer: Implications for Prognosis and PARP Inhibitor Resistance.Bioengineering (Basel, Switzerland) · 2025Article
- Thirty Years of BRCA1: Mechanistic Insights and Their Impact on Mutation Carriers.Cancer discovery · 2025Review
- Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.NPJ precision oncology · 2025Article
- Tousled-like kinase loss confers PARP inhibitor resistance in BRCA1-mutated cancers by impeding non-homologous end joining repair.Molecular medicine (Cambridge, Mass.) · 2025Article
- BRCA1 & BRCA2 methylation as a prognostic and predictive biomarker in cancer: Implementation in liquid biopsy in the era of precision medicine.Clinical epigenetics · 2024Review
- Tumor analysis of BRCA carriers reveals genomic similarities although separated by time.Discover oncology · 2024Article
- Causal effect between breast cancer and ovarian cancer: a two-sample mendelian randomization study.BMC cancer · 2024Article
- Sex differences in DNA methylation variations according to ART conception-evidence from the Norwegian mother, father, and child cohort study.Scientific reports · 2024Article
- KaryoTap Enables Aneuploidy Detection in Thousands of Single Human Cells.bioRxiv : the preprint server for biology · 2024Article
- Salivary diagnostics: opportunities and challenges.Theranostics · 2024Review
- BiallelicJCO precision oncology · 2023Article
- NBBC: a non-B DNA burden explorer in cancer.Nucleic acids research · 2023Article
- The AnnotSV webserver in 2023: updated visualization and ranking.Nucleic acids research · 2023Article
- Adjuvant Olaparib for Germline BRCA Carriers With HER2-Negative Early Breast Cancer: Evidence and Controversies.The oncologist · 2023Review
Corrections and comments
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Authors and funding
20 authors at 4 institutions in 2 countries.
Funding
Abstract
Recurrence is a major cause of death among BRCA1/2 mutation carriers with breast (BrCa) and ovarian cancers (OvCa). Herein we perform multi-omic sequencing on 67 paired primary and recurrent BrCa and OvCa from 27 BRCA1/2 mutation carriers to identify potential recurrence-specific drivers. PARP1 amplifications are identified in recurrences (False Discovery Rate q = 0.05), and PARP1 is significantly overexpressed across primary BrCa and recurrent BrCa and OvCa, independent of amplification status. RNA sequencing analysis finds two BRCA2 isoforms, BRCA2-201/Long and BRCA2-001/Short, respectively predicted to be sensitive and insensitive to nonsense-mediated decay. BRCA2-001/Short is expressed more frequently in recurrences and associated with reduced overall survival in breast cancer (87 vs. 121 months; Hazard Ratio = 2.5 [1.18-5.5]). Loss of heterozygosity (LOH) status is discordant in 25% of patient's primary and recurrent tumors, with switching between both LOH and lack of LOH found. Our study reveals multiple potential drivers of recurrent disease in BRCA1/2 mutation-associated cancer, improving our understanding of tumor evolution and suggesting potential biomarkers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.