ArticleNature genetics2024
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
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Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
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Who cites it
18 citing papers in PubMed.
- Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.Journal of medical genetics · 2026Article
- Breast-Ovarian Hereditary Cancer Syndrome: BeyondCurrent oncology (Toronto, Ont.) · 2026Review
- Article
- Histopathological evaluation of RPL5 expression in triple-negative breast cancer: an integrated immunohistochemical and transcriptomic study.European journal of histochemistry : EJH · 2026Article
- Disruption of CTCF binding by germline non-coding variants inmedRxiv : the preprint server for health sciences · 2026Article
- A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.Research square · 2026Article
- Functional insights into dispensable genes using genome-wide loss-of-function burden tests in Arabidopsis.The Plant cell · 2026Article
- Cancer and aging: complex associations and therapeutic targets.Molecular biomedicine · 2026Review
- The Quartet of Core Oncogenic Drivers in Neuroendocrine Prostate Cancer: Multi-Omics Dataset Integration to Forge a Translational Link Between Biology and Precision Therapy.International journal of biological sciences · 2026Review
- Exposure to multiple metallic elements and risk of thyroid tumors: insights from elemental profiling, diet, and molecular characteristics plasma levels of metallic elements.Frontiers in oncology · 2026Article
- Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing.Cancers · 2025Article
- Confirmation of BIK and SAMHD1 as Prostate Cancer Susceptibility Genes.The Prostate · 2025Article
- Mutation of CMTR2 in Lung Adenocarcinoma Alters RNA Alternative Splicing and Reveals Therapeutic Vulnerabilities.Nature communications · 2025Article
- Exploring the prognostic value of T cell exhaustion and mitochondrial dysfunction related genes in breast cancer through bioinformatics analysis and RT-qPCR validation.Clinical and experimental medicine · 2025Article
- Germline Testing for Prostate Cancer Patients: Evidence-Based Evaluation of Genes Recommended by NCCN Guidelines.The Prostate · 2025Article
- Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing.Genome medicine · 2025Article
- Expanding scope of genetic studies in the era of biobanks.Human molecular genetics · 2025Article
- A novel, rapid, and practical prognostic model for sepsis patients based on dysregulated immune cell lactylation.Frontiers in immunology · 2025Article
Corrections and comments
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Authors and funding
58 authors.
Erna V Ivarsdottir *deCODE genetics/Amgen, Reykjavik, Iceland. Erna.Ivarsdottir@decode.is.ORCID http://orcid.org/0000-0002-2069-0681
Julius Gudmundsson *deCODE genetics/Amgen, Reykjavik, Iceland.
Vinicius TragantedeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-8223-8957
Gardar SveinbjornssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-2429-9468
Snaedis KristmundsdottirdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8981-0883
Simon N StaceydeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-4732-7380
Gisli H HalldorssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7067-9862
Magnus I MagnussondeCODE genetics/Amgen, Reykjavik, Iceland.
Asmundur OddssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-4606-5163
G Bragi WaltersdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5415-6487
Asgeir SigurdssondeCODE genetics/Amgen, Reykjavik, Iceland.
Saedis SaevarsdottirdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-9392-6184
Doruk BeyterdeCODE genetics/Amgen, Reykjavik, Iceland.
Gudmar ThorleifssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-4623-9087
Bjarni V HalldorssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-0756-0767
Pall MelsteddeCODE genetics/Amgen, Reykjavik, Iceland.
Hreinn StefanssondeCODE genetics/Amgen, Reykjavik, Iceland.
Ingileif JonsdottirdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8339-150X
Erik SørensenDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-5002-9077
Ole B PedersenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2312-5976
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-6551-6647
Martin BøgstedCenter for Clinical Data Science, Aalborg University and Aalborg University Hospital, Aalborg, Denmark.ORCID http://orcid.org/0000-0001-9192-1814
Mette PøhlDepartment of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Andreas RøderDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-0019-5333
Hein Vincent StroombergDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-7293-9506
Ismail GögenurDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Jens HillingsøDepartment of Transplantation, Digestive Diseases and General Surgery, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Stig E BojesenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-4061-4133
Ulrik LassenDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-3865-4574
Estrid HøgdallDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Henrik UllumHU Statens Serum Institut, Copenhagen, Denmark.
Søren BrunakNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0316-5866
Sisse R OstrowskiDepartment of Clinical Immunology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-5288-3851
DBDS Genomic Consortium
Ida Elken SonderbyDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0001-7297-7855
Oleksandr FreiK.G. Jebsen Centre for Neurodevelopmental Disorders, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-6427-2625
Srdjan DjurovicDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-8140-8061
Alexandra HavdahlCenter for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway.
Pal MollerDepartment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
Mev Dominguez-ValentinDepartment of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
Jan HaavikDepartment of Biomedicine, University of Bergen, Bergen, Norway.ORCID http://orcid.org/0000-0001-7865-2808
Ole A AndreassenDivision of Mental Health and Addiction, Centre for Precision Psychiatry, University of Oslo and Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-4461-3568
Eivind HovigDepartment of Informatics, Centre for Bioinformatics, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-9103-1077
Bjarni A AgnarssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Rafn HilmarssonDepartment of General Surgery, Landspitali University Hospital, Reykjavik, Iceland.
Oskar Th JohannssonDepartment of Oncology, Landspitali University Hospital, Reykjavik, Iceland.
Trausti ValdimarssonThe Medical Center, Glaesibae, Reykjavik, Iceland.
Steinn JonssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Pall H MollerFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-8492-546X
Jon H OlafssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Bardur SigurgeirssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Jon G JonassonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-2635-5032
Geir TryggvasonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-6419-1702
Hilma HolmdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-9517-6636
Patrick SulemdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Thorunn RafnardeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-0491-7046
Daniel F GudbjartssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Kari StefanssondeCODE genetics/Amgen, Reykjavik, Iceland. kstefans@decode.is.ORCID http://orcid.org/0000-0003-1676-864X
Funding
No grant is acknowledged in the PubMed record.
Abstract
Discovery of cancer risk variants in the sequence of the germline genome can shed light on carcinogenesis. Here we describe gene burden association analyses, aggregating rare missense and loss of function variants, at 22 cancer sites, including 130,991 cancer cases and 733,486 controls from Iceland, Norway and the United Kingdom. We identified four genes associated with increased cancer risk; the pro-apoptotic BIK for prostate cancer, the autophagy involved ATG12 for colorectal cancer, TG for thyroid cancer and CMTR2 for both lung cancer and cutaneous melanoma. Further, we found genes with rare variants that associate with decreased risk of cancer; AURKB for any cancer, irrespective of site, and PPP1R15A for breast cancer, suggesting that inhibition of PPP1R15A may be a preventive strategy for breast cancer. Our findings pinpoint several new cancer risk genes and emphasize autophagy, apoptosis and cell stress response as a focus point for developing new therapeutics.
Indexed as
Genetic Predisposition to DiseaseGerm-Line MutationNeoplasmsAutophagyCase-Control StudiesFemaleHumansIcelandMaleNorwayUnited Kingdom
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