{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:53:07Z","timestamp":1791319987608,"version":"4.3.1"},"reference-count":73,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Institutes of Health National Cancer Institute","doi-asserted-by":"publisher","award":["P30-CA125123"],"award-info":[{"award-number":["P30-CA125123"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007856","name":"Baylor College of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008527","name":"Dan L Duncan Comprehensive Cancer Center, Baylor College of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008527","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ajhg.2026.08.003","type":"journal-article","created":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T14:45:59Z","timestamp":1787669159000},"page":"1929-1945","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes"],"prefix":"10.1016","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7739-2589","authenticated-orcid":false,"given":"Suhasini D.","family":"Lulla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah I.","family":"Ritter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chimene","family":"Kesserwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9626-0936","authenticated-orcid":false,"given":"Sharon E.","family":"Plon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2026.08.003_bib1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/35101031","article-title":"Two genetic hits (more or less) to cancer","volume":"1","author":"Knudson","year":"2001","journal-title":"Nat. Rev. Cancer"},{"key":"10.1016\/j.ajhg.2026.08.003_bib2","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/carcin\/bgi223","article-title":"Tumor suppressor genetics","volume":"26","author":"Payne","year":"2005","journal-title":"Carcinogenesis"},{"key":"10.1016\/j.ajhg.2026.08.003_bib3","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1073\/pnas.68.4.820","article-title":"Mutation and cancer: statistical study of retinoblastoma","volume":"68","author":"Knudson","year":"1971","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.08.003_bib4","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1158\/0008-5472.CAN-22-0405","article-title":"The Two-Hit Hypothesis Meets Epigenetics","volume":"82","author":"Issa","year":"2022","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib5","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1056\/NEJM197611112952007","article-title":"Chromosomal deletion and retinoblastoma","volume":"295","author":"Knudson","year":"1976","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ajhg.2026.08.003_bib6","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1158\/1078-0432.CCR-17-0702","article-title":"Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr","volume":"23","author":"Brodeur","year":"2017","journal-title":"Clin. Cancer Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib7","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.1002\/humu.23640","article-title":"Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes","volume":"39","author":"Walsh","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib8","doi-asserted-by":"crossref","first-page":"1939","DOI":"10.1002\/humu.23877","article-title":"Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes","volume":"40","author":"Kock","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib9","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1038\/s41467-019-11610-1","article-title":"Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis","volume":"10","author":"Vedanayagam","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.08.003_bib10","doi-asserted-by":"crossref","DOI":"10.1155\/2023\/9537832","article-title":"Specifications of the ACMG\/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation","volume":"2023","author":"Hatton","year":"2023","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib11","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1056\/NEJMoa041331","article-title":"Mutation of CEBPA in Familial Acute Myeloid Leukemia","volume":"351","author":"Smith","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ajhg.2026.08.003_bib12","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1182\/blood-2015-05-647172","article-title":"Disease evolution and outcomes in familial AML with germline CEBPA mutations","volume":"126","author":"Tawana","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2026.08.003_bib16","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/s41568-018-0060-1","article-title":"The COSMIC Cancer Gene Census: describing genetic dysfunction across all human cancers","volume":"18","author":"Sondka","year":"2018","journal-title":"Nat. Rev. Cancer"},{"key":"10.1016\/j.ajhg.2026.08.003_bib17","doi-asserted-by":"crossref","first-page":"D1003","DOI":"10.1093\/nar\/gkac888","article-title":"Genenames.org: the HGNC resources in 2023","volume":"51","author":"Seal","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib18","doi-asserted-by":"crossref","first-page":"D1023","DOI":"10.1093\/nar\/gkv1268","article-title":"TSGene 2.0: an updated literature-based knowledgebase for tumor suppressor genes","volume":"44","author":"Zhao","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib13","doi-asserted-by":"crossref","first-page":"D793","DOI":"10.1093\/nar\/gkn665","article-title":"McKusick's Online Mendelian Inheritance in Man (OMIM)","volume":"37","author":"Amberger","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1200\/PO.17.00011","article-title":"OncoKB: A Precision Oncology Knowledge Base","volume":"2017","author":"Chakravarty","year":"2017","journal-title":"JCO Precis. Oncol."},{"key":"10.1016\/j.ajhg.2026.08.003_bib14","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1002\/humu.23637","article-title":"ClinGen Allele Registry links information about genetic variants","volume":"39","author":"Pawliczek","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib15","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl Variant Effect Predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2026.08.003_bib20","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib21","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.08.003_bib22","unstructured":"J., K. (2013). Entrez\u00ae Direct: E-Utilities on the Unix Command Line. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK179288\/."},{"key":"10.1016\/j.ajhg.2026.08.003_bib23","doi-asserted-by":"crossref","unstructured":"McKinney, W. (2010). Data Structures for Statistical Computing in Python. Proceedings of the 9th Python in Science Conference. https:\/\/doi.org\/10.25080\/Majora-92bf1922-00a.","DOI":"10.25080\/Majora-92bf1922-00a"},{"key":"10.1016\/j.ajhg.2026.08.003_bib24","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/s41586-020-2649-2","article-title":"Array programming with NumPy","volume":"585","author":"Harris","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.08.003_bib27","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib28","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1186\/s13073-024-01421-5","article-title":"HGVS Nomenclature 2024: improvements to community engagement, usability, and computability","volume":"16","author":"Hart","year":"2024","journal-title":"Genome Med."},{"key":"10.1016\/j.ajhg.2026.08.003_bib25","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1002\/humu.24088","article-title":"Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines","volume":"41","author":"Tavtigian","year":"2020","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib26","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1136\/jmg-2022-108807","article-title":"Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines","volume":"60","author":"Luo","year":"2023","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2026.08.003_bib29","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1158\/2159-8290.CD-12-0095","article-title":"The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data","volume":"2","author":"Cerami","year":"2012","journal-title":"Cancer Discov."},{"key":"10.1016\/j.ajhg.2026.08.003_bib30","doi-asserted-by":"crossref","DOI":"10.1126\/scisignal.2004088","article-title":"Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal","volume":"6","author":"Gao","year":"2013","journal-title":"Sci. Signal."},{"key":"10.1016\/j.ajhg.2026.08.003_bib31","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.cell.2018.03.022","article-title":"Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer","volume":"173","author":"Hoadley","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.08.003_bib32","unstructured":"Whiting, K. (2024). cbioportalR: Browse and Query Clinical and Genomic Data from cBioPortal. https:\/\/CRAN.R-project.org\/package=cbioportalR."},{"key":"10.1016\/j.ajhg.2026.08.003_bib33","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1001\/jamaoncol.2020.6371","article-title":"Tumor Mutation Burden and Cancer Treatment","volume":"7","author":"Fusco","year":"2021","journal-title":"JAMA Oncol."},{"key":"10.1016\/j.ajhg.2026.08.003_bib34","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1158\/2159-8290.CD-23-0467","article-title":"Quantifying the Expanding Landscape of Clinical Actionability for Patients with Cancer","volume":"14","author":"Suehnholz","year":"2024","journal-title":"Cancer Discov."},{"key":"10.1016\/j.ajhg.2026.08.003_bib35","doi-asserted-by":"crossref","first-page":"D941","DOI":"10.1093\/nar\/gky1015","article-title":"COSMIC: the Catalogue Of Somatic Mutations In Cancer","volume":"47","author":"Tate","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib36","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/s41586-022-04558-8","article-title":"A joint NCBI and EMBL-EBI transcript set for clinical genomics and research","volume":"604","author":"Morales","year":"2022","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.08.003_bib37","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/1471-2105-12-35","article-title":"VennDiagram: a package for the generation of highly-customizable Venn and Euler diagrams in R","volume":"12","author":"Chen","year":"2011","journal-title":"BMC Bioinf."},{"key":"10.1016\/j.ajhg.2026.08.003_bib38","author":"Team"},{"key":"10.1016\/j.ajhg.2026.08.003_bib39","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.cell.2018.03.039","article-title":"Pathogenic Germline Variants in 10,389 Adult Cancers","volume":"173","author":"Huang","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.08.003_bib40","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1200\/CCI.20.00108","article-title":"OncoTree: A Cancer Classification System for Precision Oncology","volume":"5","author":"Kundra","year":"2021","journal-title":"JCO Clin. Cancer Inform."},{"key":"10.1016\/j.ajhg.2026.08.003_bib41","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1002\/cfg.445","article-title":"Overview and utilization of the NCI thesaurus","volume":"5","author":"Fragoso","year":"2004","journal-title":"Comp. Funct. Genomics"},{"key":"10.1016\/j.ajhg.2026.08.003_bib42","doi-asserted-by":"crossref","DOI":"10.1093\/bioinformatics\/btad756","article-title":"Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment","volume":"39","author":"D\u00edaz-Gay","year":"2023","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.08.003_bib43","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abo6371","article-title":"Cancer-driving mutations are enriched in genic regions intolerant to germline variation","volume":"8","author":"Vitsios","year":"2022","journal-title":"Sci. Adv."},{"key":"10.1016\/j.ajhg.2026.08.003_bib44","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1109\/MCSE.2007.55","article-title":"Matplotlib: A 2D Graphics Environment","volume":"9","author":"Hunter","year":"2007","journal-title":"Comput. Sci. Eng."},{"key":"10.1016\/j.ajhg.2026.08.003_bib45","doi-asserted-by":"crossref","first-page":"3021","DOI":"10.21105\/joss.03021","article-title":"seaborn: statistical data visualization","volume":"6","author":"Waskom","year":"2021","journal-title":"J. Open Source Softw."},{"key":"10.1016\/j.ajhg.2026.08.003_bib46","doi-asserted-by":"crossref","first-page":"D221","DOI":"10.1093\/nar\/gkx1031","article-title":"Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation","volume":"46","author":"Pujar","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib47","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/s41592-019-0686-2","article-title":"SciPy 1.0: fundamental algorithms for scientific computing in Python","volume":"17","author":"Virtanen","year":"2020","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2026.08.003_bib48","series-title":"An Introduction to Categorical Data Analysis, 2nd Edition","author":"Agresti","year":"2007"},{"key":"10.1016\/j.ajhg.2026.08.003_bib49","doi-asserted-by":"crossref","unstructured":"Seabold, S., and Perktold, J. (2010). Statsmodels: Econometric and Statistical Modeling with Python. Proceedings of the 9th Python in Science Conference. https:\/\/doi.org\/10.25080\/Majora-92bf1922-011.","DOI":"10.25080\/Majora-92bf1922-011"},{"key":"10.1016\/j.ajhg.2026.08.003_bib50","unstructured":"Kolde, R. (2019). pheatmap: Pretty Heatmaps. https:\/\/CRAN.R-project.org\/package=pheatmap."},{"key":"10.1016\/j.ajhg.2026.08.003_bib51","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.21105\/joss.01686","article-title":"Welcome to the {tidyverse}","volume":"4","author":"Wickham","year":"2019","journal-title":"J. Open Source Softw."},{"key":"10.1016\/j.ajhg.2026.08.003_bib52","doi-asserted-by":"crossref","first-page":"D1100","DOI":"10.1093\/nar\/gkab914","article-title":"SomaMutDB: a database of somatic mutations in normal human tissues","volume":"50","author":"Sun","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.08.003_bib53","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1038\/s41392-021-00648-7","article-title":"DNA damage repair: historical perspectives, mechanistic pathways and clinical translation for targeted cancer therapy","volume":"6","author":"Huang","year":"2021","journal-title":"Signal Transduct. Target. Ther."},{"key":"10.1016\/j.ajhg.2026.08.003_bib54","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.760039","article-title":"The Mutagenic Impact of Environmental Exposures in Human Cells and Cancer: Imprints Through Time","volume":"12","author":"Rosendahl Huber","year":"2021","journal-title":"Front. Genet."},{"key":"10.1016\/j.ajhg.2026.08.003_bib55","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1038\/s41467-020-15912-7","article-title":"Mutational signatures are jointly shaped by DNA damage and repair","volume":"11","author":"Volkova","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.08.003_bib56","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/phpp.12329","article-title":"Mechanisms and prevention of UV-induced melanoma","volume":"34","author":"Sample","year":"2018","journal-title":"Photodermatol. Photoimmunol. Photomed."},{"key":"10.1016\/j.ajhg.2026.08.003_bib57","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1200\/PO.17.00073","article-title":"Landscape of Microsatellite Instability Across 39 Cancer Types","volume":"2017","author":"Bonneville","year":"2017","journal-title":"JCO Precis. Oncol."},{"key":"10.1016\/j.ajhg.2026.08.003_bib58","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1011540","article-title":"Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants","volume":"21","author":"Haque","year":"2025","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2026.08.003_bib59","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1002\/humu.21483","article-title":"Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes","volume":"32","author":"Ivanov","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib60","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/(SICI)1098-1004(1999)13:6<464::AID-HUMU6>3.0.CO;2-A","article-title":"Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC","volume":"13","author":"Gallou","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.08.003_bib61","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ajhg.2020.12.003","article-title":"Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk","volume":"108","author":"Jia","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.08.003_bib62","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1111\/php.12377","article-title":"UV signature mutations","volume":"91","author":"Brash","year":"2015","journal-title":"Photochem. Photobiol."},{"key":"10.1016\/j.ajhg.2026.08.003_bib63","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/s41586-020-1961-1","article-title":"Tobacco smoking and somatic mutations in human bronchial epithelium","volume":"578","author":"Yoshida","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.08.003_bib64","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1053\/j.gastro.2021.06.073","article-title":"Recurrent Frameshift Neoantigen Vaccine Elicits Protective Immunity With Reduced Tumor Burden and Improved Overall Survival in a Lynch Syndrome Mouse Model","volume":"161","author":"Gebert","year":"2021","journal-title":"Gastroenterology"},{"key":"10.1016\/j.ajhg.2026.08.003_bib65","doi-asserted-by":"crossref","first-page":"4740","DOI":"10.1038\/s41467-020-18514-5","article-title":"The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution","volume":"11","author":"Ballhausen","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.08.003_bib66","doi-asserted-by":"crossref","DOI":"10.1016\/j.jlb.2025.100311","article-title":"Fragmentomic-based algorithm to computationally predict tumor-somatic, germline, and clonal hematopoiesis variant origin in liquid biopsy","volume":"9","author":"Brown","year":"2025","journal-title":"J. Liq. Biopsy"},{"key":"10.1016\/j.ajhg.2026.08.003_bib67","doi-asserted-by":"crossref","DOI":"10.1172\/JCI190264","article-title":"Detecting likely germline variants during tumor-based molecular profiling","volume":"135","author":"Jaber","year":"2025","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.ajhg.2026.08.003_bib68","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/nrg3729","article-title":"Mechanisms underlying mutational signatures in human cancers","volume":"15","author":"Helleday","year":"2014","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2026.08.003_bib69","series-title":"Hotspot BRCA1\/2 Mutations in Tumors with Microsatellite Instability Suggest Passenger Mutation Status and Evaluation of Therapeutic Options","author":"Rajagopal","year":"2025"},{"key":"10.1016\/j.ajhg.2026.08.003_bib70","doi-asserted-by":"crossref","first-page":"8973","DOI":"10.1073\/pnas.1918205117","article-title":"Trade-off between somatic and germline repair in a vertebrate supports the expensive germ line hypothesis","volume":"117","author":"Chen","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.08.003_bib71","article-title":"Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6","volume":"6","author":"Bates","year":"2025","journal-title":"HGG Adv."},{"key":"10.1016\/j.ajhg.2026.08.003_bib72","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1038\/s42003-023-05708-y","article-title":"The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities","volume":"7","author":"Venner","year":"2024","journal-title":"Commun. Biol."},{"key":"10.1016\/j.ajhg.2026.08.003_bib73","doi-asserted-by":"crossref","first-page":"5070","DOI":"10.1073\/pnas.1000798107","article-title":"Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions","volume":"107","author":"Martinez","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726003046?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726003046?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:26:34Z","timestamp":1791318394000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929726003046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":73,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S0002929726003046"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.08.003","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.08.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}