Evidence map›Paper›PMID 33567262›Full record

ArticleImmunity2021

Germline genetic contribution to the immune landscape of cancer.

Rosalyn W Sayaman, Mohamad Saad, Vésteinn Thorsson, Donglei Hu, Wouter Hendrickx, Jessica Roelands, Eduard Porta-Pardo, Younes Mokrab, Farshad Farshidfar, Tomas Kirchhoff and 16 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Immunity, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
116citing papers in PubMed, 2 pooled it
12.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

116 citing papers in PubMed, 2 syntheses or guidelines pooled it, 170 citations in OpenAlex.

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56 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors at 17 institutions in 8 countries.

Rosalyn W SayamanDepartment 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 SaadQatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar; Neuroscience Research Center, Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.
Vésteinn ThorssonInstitute for Systems Biology, Seattle, WA 98109, USA.
Donglei HuDepartment of Medicine, Institute for Human Genetics, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA.
Wouter HendrickxResearch Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Jessica RoelandsResearch Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; Department of Surgery, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Eduard Porta-PardoBarcelona Supercomputing Center (BSC); Josep Carreras Leukaemia Research Institute (IJC), Badalona, 08034 Barcelona, Catalonia, Spain.
Younes MokrabResearch 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 FarshidfarDepartment 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 KirchhoffPerlmutter Cancer Center, New York University School of Medicine, New York University Langone Health, New York, NY 10016, USA.
Randy F SweisDepartment of Medicine, Section of Hematology/Oncology, Committee on Clinical Pharmacology and Pharmacogenomics, Committee on Immunology, University of Chicago, Chicago, IL 60637, USA.
Oliver F BatheDepartment 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 HeimannInstitute for Systems Biology, Seattle, WA 98109, USA.
Michael J CampbellDepartment of Surgery, University of California, San Francisco, San Francisco, CA 94143, USA.
Cynthia StretchDepartment of Oncology, University of Calgary, Alberta AB T2N 4N1, Canada; Arnie Charbonneau Cancer Institute, Calgary, Alberta AB T2N 4N1, Canada.
Scott HuntsmanDepartment of Medicine, Institute for Human Genetics, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA.
Rebecca E GraffDepartment of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA.
Najeeb SyedResearch Branch, Sidra Medicine, PO Box 26999 Doha, Qatar; Department of Science and Technology, University of Sannio, 82100 Benevento, Italy.
Laszlo RadvanyiOntario Institute for Cancer Research, Toronto, Ontario M5G 0A3, Canada.
Simon ShelleyDepartment of Research and Development, Leukemia Therapeutics, LLC, Hull, MA 02045, USA.
Denise WolfDepartment of Laboratory Medicine, Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94143, USA.
Francesco M MarincolaRefuge Biotechnologies Inc., Menlo Park, CA 94025, USA.
Michele CeccarelliDepartment 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 GalonINSERM, Laboratory of Integrative Cancer Immunology, Equipe Labellisée Ligue Contre Le Cancer, Centre de Recherche de Cordeliers, Université de Paris, Sorbonne Université, Paris, France.
Elad ZivDepartment 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 BedognettiResearch 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.
University of California, San Francisco · USUniversity of Calgary · CAHamad bin Khalifa University · QAInstitute for Systems Biology · USBarcelona Supercomputing Center · ESBiogem · ITInserm · FRLawrence Berkeley National Laboratory · USLebanese University · LBLeiden University Medical Center · NLLeukemia Research Foundation · USNYU Langone Health · USOntario Institute for Cancer Research · CAQatar Airways (Qatar) · QARefuge Biotechnologies (United States) · USUniversity of Chicago · USUniversity of Sannio · IT

Funding

(8) Genetics of Immune Related Adverse Events and Response to ImmunotherapyR01CA227466 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ZIV, ELAD · 2018 to 2023
$3.3M
Genetics of mammographic density and breast cancer risk in LatinasK24CA169004 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ZIV, ELAD · 2012 to 2021
$1.8M
Cancer Metabolism Training ProgramT32CA221709 · NCI · BECKMAN RESEARCH INSTITUTE/CITY OF HOPE · PI David K. Ann, Victoria L. Seewaldt · 2018 to 2026
$1.8M
NCI NIH HHS K24 CA169004NCI NIH HHS R01 CA227466NCI NIH HHS T32 CA221709
6 · The paper itself

Abstract

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.

Indexed as

beta CateninDatabases, GeneticFemaleGene Expression Regulation, NeoplasticGenes, BRCA1Genome-Wide Association StudyGerm-Line MutationHumansImmunotherapyInterferonsKiller Cells, NaturalLymphocytes, Tumor-InfiltratingMaleMiddle AgedNeoplasmsQuantitative Trait, Heritablebeta CateninInterferonsRetinoblastoma-Like Protein p107Wnt Proteinscancer immune landscapecancer immunityCancer immunotherapygermline geneticsGWASheritabilityiATLASImmune subtypesrare variant analysisTCGA

Identifiers

PMID33567262
PMCPMC8414660
OpenAlexW3127961017

What OpenQuestion holds

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Registered trials

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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.