ArticleCancers2020
Genomic Mapping Identifies Mutations in RYR2 and AHNAK as Associated with Favorable Outcome in Basal-Like Breast Tumors Expressing PD1/PD-L1.
Article in Cancers, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 30 citations in OpenAlex.
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- TriCLFF: a multi-modal feature fusion framework using contrastive learning for spatial domain identification.Briefings in bioinformatics · 2025Article
- In silico analysis of CSF2RB from cancer genomic databases reveals a heterogeneous role in different breast cancer subtypes.Frontiers in bioinformatics · 2025Article
- T-reg transcriptomic signatures identify response to check-point inhibitors.Scientific reports · 2024Article
- Molecular subtyping based on immune cell marker genes predicts prognosis and therapeutic response in patients with lung adenocarcinoma.BMC cancer · 2023Article
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- Genomic alteration profile and PD-L1 expression among different breast cancer subtypes in Chinese population and their correlations.Cancer medicine · 2023Article
- Mapping Immune Correlates and Surfaceome Genes inCurrent oncology (Toronto, Ont.) · 2023Article
- GBP5 Identifies Immuno-Hot Tumors and Predicts the Therapeutic Response to Immunotherapy in NSCLC.International journal of general medicine · 2023Article
- AHNAKs roles in physiology and malignant tumors.Frontiers in oncology · 2023Review
- Identification of a predictive gene signature related to pyroptosis for the prognosis of cutaneous melanoma.Medicine · 2022Article
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- Molecular profile of pure squamous cell carcinoma of the bladder identifies major roles for OSMR and YAP signalling.The journal of pathology. Clinical research · 2022Article
- CircRNA_0008194 functions as a ceRNA to promote invasion of hepatocellular carcinoma via inhibiting miR-190a/AHNAK signaling pathway.Journal of clinical laboratory analysis · 2022Article
- Tumor Cell-Autonomous Pro-Metastatic Activities of PD-L1 in Human Breast Cancer Are Mediated by PD-L1-S283 and Chemokine Axes.Cancers · 2022Article
- Critical role of guanylate binding protein 5 in tumor immune microenvironment and predictive value of immunotherapy response.Frontiers in genetics · 2022Article
- Discovery of Spatial Peptide Signatures for Neuroblastoma Risk Assessment by MALDI Mass Spectrometry Imaging.Cancers · 2021Article
- GBP5 Repression Suppresses the Metastatic Potential and PD-L1 Expression in Triple-Negative Breast Cancer.Biomedicines · 2021Article
- Construction of competing endogenous RNA interaction network as prognostic markers in metastatic melanoma.PeerJ · 2021Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Treatment with anti-PD-L1 antibodies has shown efficacy in basal-like breast cancer. In this context, identification of pre-activated immune tumors is a main goal. Here we explore mutations in PD1 and PD-L1 high-expressing tumors to identify genomic correlates associated with outcome. To do so, RNA-seq and mutation data from 971 breast cancer patients from the TCGA dataset were used to identify most prevalent mutations in patients with high levels of PD1 and PD-L1. Transcriptomic signatures associated with the selected mutations were identified and analyzed in terms of outcome and immune cell infiltration. We identified co-occurrent mutations in RYR2 and AHNAK in 8% and 5% of basal-like tumors respectively, which conferred good prognosis in patients with high expression of PD1 and PD-L1 genes. The transcriptomic signature associated with these mutations, composed of CXCL9, GBP5, C1QA, IL2RG, CSF2RB, IDO1 and LAG3 genes, also conferred good prognosis and correlated with immune infiltrations within the tumors. The joint signature classified patients with favorable relapse-free survival (HR: 0.28; CI: 0.2-0.38;
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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.