ArticlePloS one2019
Association of BRCA1- and BRCA2-deficiency with mutation burden, expression of PD-L1/PD-1, immune infiltrates, and T cell-inflamed signature in breast cancer.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
70 citing papers in PubMed, 118 citations in OpenAlex.
- Expanding the therapeutic scope of PARP inhibitors in breast cancer: current indications and future directions.The Journal of clinical investigation · 2026Review
- Breast cancer immunogenicity as a spectrum: evolving concepts and therapeutic implications.The Journal of clinical investigation · 2026Review
- The DNA damage response and cancer immunotherapy.Nature reviews. Cancer · 2026Review
- Efficacy and toxicity of neoadjuvant chemotherapy versus chemo-immunotherapy in triple-negative breast cancer patients with and without germline BRCA mutations.Breast cancer research and treatment · 2026Article
- Transcriptomic deconvolution reveals prognostic immune signatures and immunotherapy-responsive subtypes in male breast cancer.Breast cancer research : BCR · 2026Article
- Effects of nucleic acid metabolism on prognosis and immune invasion of triple-negative breast cancer.Genes and immunity · 2026Article
- Integrating homologous recombination deficiency subtyping with TCGA molecular classification for enhanced prognostic stratification and personalised therapy in endometrial cancer.British journal of cancer · 2026Article
- Molecular subgroups and biomarker guided precision immunotherapy in triple-negative breast cancer: advances, challenges, and future directions.Frontiers in immunology · 2026Review
- Biomarker prediction of immunotherapy response in breast cancer: from single markers to multi-omics integration.NPJ breast cancer · 2025Review
- Healthy BRCA1/2 mutation carriers exhibit a pre-CAF signature and altered epithelial marker expression in breast tissue.Scientific reports · 2025Article
- The distinct landscape of tumor immune microenvironment in homologous recombination deficient cancers.Biomarker research · 2025Review
- CD105Breast cancer research : BCR · 2025Article
- Pancancer analysis of DNA damage repair gene mutations and their impact on immune regulatory gene expression.Scientific reports · 2025Article
- Thirty Years of BRCA1: Mechanistic Insights and Their Impact on Mutation Carriers.Cancer discovery · 2025Review
- The Tumour Microenvironment and Epigenetic Regulation inCancers · 2024Review
- Advances in siRNA Drug Delivery Strategies for Targeted TNBC Therapy.Bioengineering (Basel, Switzerland) · 2024Review
- Targeting cytotoxic lymphocyte antigen 4 (CTLA-4) in breast cancer.European journal of medical research · 2024Review
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Genomic instability as a driver and suppressor of anti-tumor immunity.Frontiers in immunology · 2024Review
- A murine model to evaluate immunotherapy effectiveness for human Fanconi anemia-mutated acute myeloid leukemia.PloS one · 2024Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Immune checkpoint inhibitors have demonstrated effective anti-tumour response in cancer types with high mutation burden (e.g. melanoma) and in subset of cancers with features of genomic instability (e.g. mismatch-repair deficiency). One possible explanation for this effect is the increased expression of immune checkpoint molecules and pre-existing adaptive immune response in these cancers. Given that BRCA1 and BRCA2 are integral in maintaining genomic integrity, we hypothesise that the inactivation of these genes may give rise to breast cancers with such immunogenic phenotype. Therefore, using two large series of publicly available breast cancer datasets, namely that from The Cancer Genome Atlas and Wellcome Trust Institute, we sought to investigate the association between BRCA1- and BRCA2-deficiency with features of genomic instability, expression of PD-L1 and PD-1, landscape of inferred tumour-infiltrating immune cells, and T-cell inflamed signature in breast cancers. Here, we report that BRCA1 and BRCA2-deficient breast cancers were associated with features of genomic instability including increased mutation burden. Interestingly, BRCA1-, but not BRCA2-, deficient breast cancers were associated with increased expression of PD-L1 and PD-1, higher abundance of tumour-infiltrating immune cells, and enrichment of T cell-inflamed signature. The differences in immunophenotype between BRCA1- and BRCA2-deficient breast cancers can be attributed, in part, to PTEN gene mutation. Therefore, features of genomic instability such as that mediated by BRCA1- and BRCA2- deficiency in breast cancer were necessary, but not always sufficient, for yielding T cell-inflamed tumour microenvironment, and by extension, predicting clinical benefit from immunotherapy.
Indexed as
Identifiers
What OpenQuestion holds
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.