Germline genetic contribution to the immune landscape of cancer.

Databases, Genetic Female Gene Expression Regulation, Neoplastic Genes, BRCA1 Genome-Wide Association Study Germ-Line Mutation / genetics Humans Immunotherapy / methods Interferons / metabolism Killer Cells, Natural / immunology Lymphocytes, Tumor-Infiltrating / immunology Male Middle Aged Neoplasms / genetics Quantitative Trait, Heritable Retinoblastoma-Like Protein p107 / genetics Signal Transduction / genetics T-Lymphocytes / immunology Wnt Proteins / genetics beta Catenin / genetics
Cancer immunotherapy GWAS Immune subtypes TCGA cancer immune landscape cancer immunity germline genetics heritability iATLAS rare variant analysis

Journal

Immunity
ISSN: 1097-4180
Titre abrégé: Immunity
Pays: United States
ID NLM: 9432918

Informations de publication

Date de publication:
09 02 2021
Historique:
received: 20 01 2020
revised: 14 10 2020
accepted: 13 01 2021
entrez: 10 2 2021
pubmed: 11 2 2021
medline: 8 9 2021
Statut: ppublish

Résumé

Understanding the contribution of the host's genetic background to cancer immunity may lead to improved stratification for immunotherapy and to the identification of novel therapeutic targets. We investigated the effect of common and rare germline variants on 139 well-defined immune traits in ∼9000 cancer patients enrolled in TCGA. High heritability was observed for estimates of NK cell and T cell subset infiltration and for interferon signaling. Common variants of IFIH1, TMEM173 (STING1), and TMEM108 were associated with differential interferon signaling and variants mapping to RBL1 correlated with T cell subset abundance. Pathogenic or likely pathogenic variants in BRCA1 and in genes involved in telomere stabilization and Wnt-β-catenin also acted as immune modulators. Our findings provide evidence for the impact of germline genetics on the composition and functional orientation of the tumor immune microenvironment. The curated datasets, variants, and genes identified provide a resource toward further understanding of tumor-immune interactions.

Identifiants

DOI: 10.1016/j.immuni.2021.01.011 PMID: 33567262 PMC: PMC8414660
pubmed: 33567262
pii: S1074-7613(21)00034-0
doi: 10.1016/j.immuni.2021.01.011
pmc: PMC8414660
mid: NIHMS1671464
pii:
doi:

Substances chimiques

Retinoblastoma-Like Protein p107 0
Wnt Proteins 0
beta Catenin 0
Interferons 9008-11-1

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

367-386.e8

Subventions

Organisme : NCI NIH HHS
ID : K24 CA169004
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA227466
Pays : United States
Organisme : NCI NIH HHS
ID : T32 CA221709
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declarations of interests R.F.S. has received consulting honoraria from Aduro, Astellas, AstraZeneca, BMS, EMD Serono, Exelixis, Eisai, Janssen, Mirati, Pfizer, Puma, and Seattle Genetics. R.F.S. has received research support (to institution) from Abbvie, Aduro, Bayer, BMS, CytomX, Eisai, Eli Lilly, Genentech/Roche, Immunocore, Novartis, Merck, Mirati, Moderna, and QED therapeutics. F.M.M. is an employee of Refuge Biotechnologies. J.G. has patents associated with ‘‘in vitro method for the prognosis of progression of a cancer’’ (PCT/IB2006/003168, PCT/EP2013/062405)” and received royalties from INSERM. J.G. is Co-founder and chairman of the scientific advisory board of HalioDx. J.G. has Collaborative Research Agreement grants with Akoya, IObiotech, MedImmune, AstraZeneca, Janssen, and Imcheck Therapeutics. J.G. participated to Scientific Advisory Boards and is consultant for BMS, Novartis, Merck Serono, IObiotech, Nanostring, Illumina, Northwest Biotherapeutics, Actelion, Amgen, Merck MSD, Lunaphore, Catalym, and Sanofi.

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Auteurs

Rosalyn W Sayaman (RW)

Department of Population Sciences, Beckman Research Institute, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA; Department of Laboratory Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA; Biological Sciences and Engineering Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA. Electronic address: rwsayaman@gmail.com.

Mohamad Saad (M)

Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar; Neuroscience Research Center, Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.

Vésteinn Thorsson (V)

Institute for Systems Biology, Seattle, WA 98109, USA.

Donglei Hu (D)

Department of Medicine, Institute for Human Genetics, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA.

Wouter Hendrickx (W)

Research Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.

Jessica Roelands (J)

Research Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; Department of Surgery, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.

Eduard Porta-Pardo (E)

Barcelona Supercomputing Center (BSC); Josep Carreras Leukaemia Research Institute (IJC), Badalona, 08034 Barcelona, Catalonia, Spain.

Younes Mokrab (Y)

Research Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar; Weill Cornell Medicine, Doha, Qatar.

Farshad Farshidfar (F)

Department of Oncology, University of Calgary, Alberta AB T2N 4N1, Canada; Arnie Charbonneau Cancer Institute, Calgary, Alberta AB T2N 4N1, Canada; Department of Biomedical Data Science and Institute for Stem Cell Biology and Regenerative Medicine, School of Medicine, Stanford University, Stanford, CA 94305, USA; Tenaya Therapeutics, South San Francisco, CA 94080, USA.

Tomas Kirchhoff (T)

Perlmutter Cancer Center, New York University School of Medicine, New York University Langone Health, New York, NY 10016, USA.

Randy F Sweis (RF)

Department of Medicine, Section of Hematology/Oncology, Committee on Clinical Pharmacology and Pharmacogenomics, Committee on Immunology, University of Chicago, Chicago, IL 60637, USA.

Oliver F Bathe (OF)

Department of Oncology, University of Calgary, Alberta AB T2N 4N1, Canada; Arnie Charbonneau Cancer Institute, Calgary, Alberta AB T2N 4N1, Canada; Department of Surgery, University of Calgary, Calgary, Alberta AB T2N 4N1, Canada.

Carolina Heimann (C)

Institute for Systems Biology, Seattle, WA 98109, USA.

Michael J Campbell (MJ)

Department of Surgery, University of California, San Francisco, San Francisco, CA 94143, USA.

Cynthia Stretch (C)

Department of Oncology, University of Calgary, Alberta AB T2N 4N1, Canada; Arnie Charbonneau Cancer Institute, Calgary, Alberta AB T2N 4N1, Canada.

Scott Huntsman (S)

Department of Medicine, Institute for Human Genetics, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA.

Rebecca E Graff (RE)

Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA.

Najeeb Syed (N)

Research Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; Department of Science and Technology, University of Sannio, 82100 Benevento, Italy.

Laszlo Radvanyi (L)

Ontario Institute for Cancer Research, Toronto, Ontario M5G 0A3, Canada.

Simon Shelley (S)

Department of Research and Development, Leukemia Therapeutics, LLC, Hull, MA 02045, USA.

Denise Wolf (D)

Department of Laboratory Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA.

Francesco M Marincola (FM)

Refuge Biotechnologies Inc., Menlo Park, CA 94025, USA.

Michele Ceccarelli (M)

Department of Electrical Engineering and Information Technology, University of Naples "Federico II," 80128 Naples, Italy; Istituto di Ricerche Genetiche "G. Salvatore," Biogem s.c.ar.l., 83031 Ariano Irpino, Italy.

Jérôme Galon (J)

INSERM, Laboratory of Integrative Cancer Immunology, Equipe Labellisée Ligue Contre Le Cancer, Centre de Recherche de Cordeliers, Université de Paris, Sorbonne Université, Paris, France.

Elad Ziv (E)

Department of Medicine, Institute for Human Genetics, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: elad.ziv@ucsf.edu.

Davide Bedognetti (D)

Research Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar; Department of Internal Medicine and Medical Specialties (Di.M.I.), University of Genoa, 16132 Genoa, Italy. Electronic address: dbedognetti@sidra.org.

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Classifications MeSH

questionsmedicales.fr › Sciences de l'information › Mémorisation et recherche des informations › Bases de données comme sujet › Bases de données factuelles › Bases de données génétiques › Germline genetic contribution to the immune...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Régulation de l'expression des gènes tumoraux › Germline genetic contribution to the immune...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Gènes suppresseurs de tumeur › Gène BRCA1 › Germline genetic contribution to the immune...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Germline genetic contribution to the immune...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Germline genetic contribution to the immune...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Germline genetic contribution to the immune...
questionsmedicales.fr › Thérapeutique › Biothérapie › Immunothérapie › Germline genetic contribution to the immune...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interférons › Germline genetic contribution to the immune...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Cellules tueuses naturelles › Germline genetic contribution to the immune...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes TIL › Germline genetic contribution to the immune...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Germline genetic contribution to the immune...
questionsmedicales.fr › Tumeurs › Germline genetic contribution to the immune...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Caractère quantitatif héréditaire › Germline genetic contribution to the immune...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Phosphoprotéines › Protéine p107 de type rétinoblastome › Germline genetic contribution to the immune...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › Germline genetic contribution to the immune...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Germline genetic contribution to the immune...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Protéines de type Wingless › Germline genetic contribution to the immune...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › bêta-Caténine › Germline genetic contribution to the immune...