Explanipedia

Clonal hematopoiesis is associated with reduced response to atezolizumab in non-small cell lung cancer Open

Vylyny Chat, Kipper Fletez‐Brant, Minu K. Srivastava, Barzin Y. Nabet, Ira Mellman , et al. · 2025

Background The acquisition of somatic mutations associated with the expansion of certain hematopoietic stem cells is known as clonal hematopoiesis (CH). Despite evidence of CH association with age-related pro-inflammatory diseases, little …

Advances in the understanding and therapeutic manipulation of cancer immune responsiveness: a Society for Immunotherapy of Cancer (SITC) review Open

Alessandra Cesano, Ryan C. Augustin, Luigi Barrea, Davide Bedognetti, Tullia C. Bruno , et al. · 2025

Cancer immunotherapy—including immune checkpoint inhibition (ICI) and adoptive cell therapy (ACT)—has become a standard, potentially curative treatment for a subset of advanced solid and liquid tumors. However, most patients with cancer do…

1178 Association between polygenic risk for thyroid dysfunction, derived from tumor panel sequencing, immune-related thyroid toxicity and overall survival in ICI treated NSCLC patients Open

Ericka Ebot, David P. Bray, Cameron Adams, Dexter X. Jin, Per Kreutzfeldt-Jensen , et al. · 2024

1202 An NGS-based workflow to estimate allele-specific HLA loss of heterozygosity Open

Jieming Chen, William F. Forrest, Jan H. Bergmann, Jason Perera, Aude-Hélène Capietto , et al. · 2024

Distinct genetic liability profiles define clinically relevant patient strata across common diseases Open

Lucia Trastulla, Georgii Dolgalev, Sylvain Moser, Laura T. Jiménez-Barrón, Till F. M. Andlauer , et al. · 2024

527 Clonal hematopoiesis is associated with reduced response to immune checkpoint inhibitors in lung cancer Open

Vylyny Chat, Minu K. Srivastava, Barzin Y. Nabet, Ira Mellman, Mark I. McCarthy , et al. · 2023

Background Clonal hematopoiesis (CH) is characterized by clonal expansion of hematopoietic stem cells harboring somatic driver mutations for hematologic malignancies in epigenetic regulator genes such as the DNMT3A, TET2, and ASXL1.…

1238 Risk evaluation of immune checkpoint inhibitor diabetes through islet autoantibodies & HLA types in a large, real-world cohort Open

Zoe Quandt, Samantha I. Liang, Anastasia Lucas, Marshall R Thompson, Ashis Saha , et al. · 2023

Background From 2019–2022, we prospectively enrolled 1200 pan-cancer patients treated with immune checkpoint inhibitors (CPI) and identified three CPI-diabetes mellitus (DM) cases as part of the Radiohead study.1 Baseline and on-treatment …

449 Polygenic risk scores for liver injury are associated with the risk for autoimmune hepatitis in patients treated with atezolizumab Open

Ashis Saha, Cameron Adams, David Roe, Mark I. McCarthy, Ira Mellman , et al. · 2023

Background Immune checkpoint inhibitor (ICI)-induced hepatitis is a relatively common immune-related adverse event (irAE).^1–3 Understanding the underlying genetic factors contributing to the development of irAEs is crucial for i…

Systematic discovery of neoepitope–HLA pairs for neoantigens shared among patients and tumor types Open

Hem R. Gurung, Amy Heidersbach, Martine Darwish, Pamela Pui Fung Chan, Jenny Li , et al. · 2023

The broad application of precision cancer immunotherapies is limited by the number of validated neoepitopes that are common among patients or tumor types. To expand the known repertoire of shared neoantigen–human leukocyte antigen (HLA) co…

Natural killer cell educating KIR/HLA combinations impact survival in anti-PD-L1 treated cancer patients Open

David Roe, Howard Rosoff, Dan Fu Ruan, Zia Khan, Pranay Dogra , et al. · 2022

Natural killer (NK) cells are educated through the binding of killer immunoglobulin like receptors (KIR) to human leukocyte antigen (HLA) proteins, but it is unknown whether the presence of these highly diverse KIR/HLA interactions influen…

A genome-wide association study of chronic spontaneous urticaria risk and heterogeneity Open

Diana Chang, Christian Hammer, Cécile Holweg, Suresh Selvaraj, Nisha Rathore , et al. · 2022

NKG2A and HLA-E define an alternative immune checkpoint axis in bladder cancer Open

Bérengère Salomé, John P. Sfakianos, Daniel Ranti, Jorge Daza, Christine Bieber , et al. · 2022

Hallmarks of Resistance to Immune-Checkpoint Inhibitors Open

Maria Karasarides, Alexandria P. Cogdill, Paul B. Robbins, Michaela Bowden, Elizabeth M. Burton , et al. · 2022

Immune-checkpoint inhibitors (ICI), although revolutionary in improving long-term survival outcomes, are mostly effective in patients with immune-responsive tumors. Most patients with cancer either do not respond to ICIs at all or experien…

Allelic variation in HLA‐DRB1 is associated with development of a ntidrug antibodies in cancer patients treated with atezolizumab that are neutralizing in vitro Open

Christian Hammer, Jane Ruppel, Lynn Kamen, Julie Hunkapiller, Ira Mellman , et al. · 2022

The treatment of diseases with biologic agents can result in the formation of antidrug antibodies (ADA). Although drivers for ADA formation are unknown, a role for antigen presentation is likely, and variation in human leukocyte antigen (H…

NKG2A and HLA-E define a novel alternative immune checkpoint axis in bladder cancer Open

Bérengère Salomé, John P. Sfakianos, Jorge Daza, Andrew Charap, Christian Hammer , et al. · 2022

Summary PD-1/PD-L1-blockade immunotherapies have limited efficacy in the treatment of muscle-invasive bladder cancer (MIBC) and metastatic urothelial carcinoma. Here, we show that KLRC1 (NKG2A) expression associates with improved survival …

Peer Review #3 of "KIR gene content imputation from single-nucleotide polymorphisms in the Finnish population (v0.2)" Open

Christian Hammer · 2022

The killer cell immunoglobulin-like receptor (KIR) gene cluster on chromosome 19 encodes cell surface glycoproteins that bind class I human leukocyte antigen (HLA) molecules as well as some other ligands.Through regulation of natural kille…

Peer Review #3 of "KIR gene content imputation from single-nucleotide polymorphisms in the Finnish population (v0.1)" Open

Christian Hammer · 2022

The killer cell immunoglobulin-like receptor (KIR) gene cluster on chromosome 19 encodes cell surface glycoproteins that bind class I human leukocyte antigen (HLA) molecules as well as some other ligands.Through regulation of natural kille…

Disparities in Tumor Mutational Burden, Immunotherapy Use, and Outcomes Based on Genomic Ancestry in Non–Small-Cell Lung Cancer Open

Otis W. Brawley, Patricia Luhn, Deonna Reese-White, Uzor C. Ogbu, Sriraman Madhavan , et al. · 2021

PURPOSE In patients with advanced non–small-cell lung cancer (aNSCLC), tumor mutational burden (TMB) may vary by genomic ancestry; however, its impact on treatment outcomes is unclear. This retrospective, observational study describes trea…

811 Allelic variation in Human Leukocyte Antigen class II genes is associated with pneumonitis risk in cancer patients treated with immune checkpoint inhibitors Open

Ashis Saha, Christine N. Spencer, Zia Khan, Jonathan Carroll, Claudia Yanez Arellano , et al. · 2021

Background Immune-mediated adverse events (imAE) commonly occur in patients treated with immune checkpoint inhibitors (ICI), and pneumonitis is known to occur in 3 -5 % of patients treated with anti-PD-1 / PD-L1 antibodies.¹ Mos…

MiDAS—Meaningful Immunogenetic Data at Scale Open

Maciej Migdał, Dan Fu Ruan, William F. Forrest, Amir Horowitz, Christian Hammer · 2021

Human immunogenetic variation in the form of HLA and KIR types has been shown to be strongly associated with a multitude of immune-related phenotypes. However, association studies involving immunogenetic loci most commonly involve simple a…

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome Open

Sandra Mohr, Nikola Fritz, Christian Hammer, Cristina Martínez, Sabrina Berens , et al. · 2021

Irritable bowel syndrome (IBS) is a gut‐brain disorder in which symptoms are shaped by serotonin acting centrally and peripherally. The serotonin transporter gene SLC6A4 has been implicated in IBS pathophysiology, but the underlying geneti…

Human genomics of the humoral immune response against polyomaviruses Open

Flavia Hodel, Amanda Y. Chong, Petar Šćepanović, Zhi Ming Xu, Olivier Naret , et al. · 2021

Human polyomaviruses are widespread in humans and can cause severe disease in immunocompromised individuals. To identify human genetic determinants of the humoral immune response against polyomaviruses, we performed genome-wide association…

Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade Open

Zia Khan, Christian Hammer, Jonathan Carroll, Flavia Di Nucci, Sergio Ley Acosta , et al. · 2021

A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts Open

Guiyan Ni, Jian Zeng, Joana Revez, Ying Wang, Zhili Zheng , et al. · 2021

Allelic Variation inHLA-DRB1is Associated with Development of Anti-Drug Antibodies in Cancer Patients Treated with Atezolizumab that are Neutralizingin Vitro Open

Christian Hammer, Jane Ruppel, Julie Hunkapiller, Ira Mellman, Valerie Quarmby · 2021

The treatment of diseases with biologic agents can result in the formation of anti-drug antibodies (ADA). The occurrence of ADA were reported for atezolizumab, an anti-PD-L1 monoclonal antibody widely used as immunotherapeutic treatment in…

Author Correction: The influence of human genetic variation on Epstein–Barr virus sequence diversity Open

Sina Rüeger, Christian Hammer, Alexis Loetscher, Paul J. McLaren, Dylan Lawless , et al. · 2021

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

The influence of human genetic variation on Epstein–Barr virus sequence diversity Open

Sina Rüeger, Christian Hammer, Alexis Loetscher, Paul J. McLaren, Dylan Lawless , et al. · 2021

Epstein–Barr virus (EBV) is one of the most common viruses latently infecting humans. Little is known about the impact of human genetic variation on the large inter-individual differences observed in response to EBV infection. To search fo…

MiDAS - Meaningful Immunogenetic Data at Scale Open

Maciej Migdał, Dan Fu Ruan, William F. Forrest, Amir Horowitz, Christian Hammer · 2021

Human immunogenetic variation in the form of HLA and KIR types has been shown to be strongly associated with a multitude of immune-related phenotypes. We present MiDAS, an R package enabling statistical association analysis and using immun…

The influence of human genetic variation on Epstein-Barr virus sequence diversity Open

Sina Rüeger, Christian Hammer, Alexis Loetscher, Paul J. McLaren, Dylan Lawless , et al. · 2020

Epstein-Barr virus (EBV) is one of the most common viruses latently infecting humans. Little is known about the impact of human genetic variation on the large inter-individual differences observed in response to EBV infection. To search fo…

Human genomics of the humoral immune response against polyomaviruses Open

Flavia Hodel, Amanda Y. Chong, Petar Šćepanović, Zhi Ming Xu, Olivier Naret , et al. · 2020

Human polyomaviruses are widespread in human populations and are able to cause severe disease in immunocompromised individuals. There remains an incomplete understanding of the potential impact of human genetic variation on inter-individua…

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