{"id":"https://openalex.org/W7204188134","doi":"https://doi.org/10.1016/j.ajhg.2026.08.003","title":"Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes","display_name":"Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes","publication_year":2026,"publication_date":"2026-08-25","ids":{"openalex":"https://openalex.org/W7204188134","doi":"https://doi.org/10.1016/j.ajhg.2026.08.003","pmid":"https://pubmed.ncbi.nlm.nih.gov/42641600","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13508591"},"language":"en","primary_location":{"id":"doi:10.1016/j.ajhg.2026.08.003","doi":"https://doi.org/10.1016/j.ajhg.2026.08.003","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2026.08.003","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.ajhg.2026.08.003","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070595408","display_name":"Suhasini D. Lulla","orcid":"https://orcid.org/0000-0002-7739-2589","observed_orcids":["https://orcid.org/0000-0002-7739-2589"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Suhasini D. Lulla","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer and Hematology Center, Houston, TX 77030, USA"],"raw_orcid":"https://orcid.org/0000-0002-7739-2589","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer and Hematology Center, Houston, TX 77030, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014715060","display_name":"Deborah Ritter","orcid":"https://orcid.org/0009-0005-2930-4010","observed_orcids":["https://orcid.org/0009-0005-2930-4010"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Deborah I. Ritter","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer and Hematology Center, Houston, TX 77030, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer and Hematology Center, Houston, TX 77030, USA","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074600159","display_name":"Chimene A. Kesserwan","orcid":"https://orcid.org/0000-0001-6043-2065","observed_orcids":["https://orcid.org/0000-0001-6043-2065"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chimene Kesserwan","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028969570","display_name":"Sharon E. Plon","orcid":"https://orcid.org/0000-0002-9626-0936","observed_orcids":["https://orcid.org/0000-0002-9626-0936"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Sharon E. Plon","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer and Hematology Center, Houston, TX 77030, USA. Electronic address: splon@bcm.edu"],"raw_orcid":"https://orcid.org/0000-0002-9626-0936","affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Cancer and Hematology Center, Houston, TX 77030, USA. Electronic address: splon@bcm.edu","institution_ids":["https://openalex.org/I181547552"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5028969570"],"corresponding_institution_ids":["https://openalex.org/I181547552"],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":{"value":5150,"currency":"USD","value_usd":5150},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.59632647,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"113","issue":"9","first_page":"1929","last_page":"1945"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.7314000129699707,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.7314000129699707,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.23960000276565552,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.008700000122189522,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.9890000224113464},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.9710000157356262},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.9679999947547913},{"id":"https://openalex.org/keywords/mutational-signatures","display_name":"mutational signatures","score":0.6850000023841858},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.671999990940094},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6800000071525574},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.9459999799728394},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.6690000295639038},{"id":"https://openalex.org/keywords/microsatellite-instability","display_name":"microsatellite instability","score":0.9909999966621399},{"id":"https://openalex.org/keywords/environmental-mutagens","display_name":"environmental mutagens","score":0.7549999952316284},{"id":"https://openalex.org/keywords/variant-clustering","display_name":"variant clustering","score":0.5559999942779541},{"id":"https://openalex.org/keywords/pleiotropy","display_name":"pleiotropy","score":0.7360000014305115},{"id":"https://openalex.org/keywords/tp53","display_name":"TP53","score":0.734000027179718},{"id":"https://openalex.org/keywords/dicer1","display_name":"DICER1","score":0.8659999966621399},{"id":"https://openalex.org/keywords/smad4","display_name":"SMAD4","score":0.9100000262260437},{"id":"https://openalex.org/keywords/rb1","display_name":"RB1","score":0.8050000071525574},{"id":"https://openalex.org/keywords/apc","display_name":"APC","score":0.972000002861023},{"id":"https://openalex.org/keywords/wt1","display_name":"WT1","score":0.8809999823570251},{"id":"https://openalex.org/keywords/wilms-tumor","display_name":"Wilms tumor","score":0.7599999904632568},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.6190000176429749},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.41499999165534973}],"concepts":[{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.8590999841690063},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8011000156402588},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.7949000000953674},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.734499990940094},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.6970999836921692},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4909000098705292},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4772999882698059},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.42910000681877136},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.3774999976158142},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.35429999232292175},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3456000089645386},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3260999917984009},{"id":"https://openalex.org/C2778264664","wikidata":"https://www.wikidata.org/wiki/Q422445","display_name":"Tumor suppressor gene","level":4,"score":0.3082999885082245},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.30570000410079956},{"id":"https://openalex.org/C48720390","wikidata":"https://www.wikidata.org/wiki/Q5552250","display_name":"Germline mosaicism","level":4,"score":0.290800005197525},{"id":"https://openalex.org/C2779767149","wikidata":"https://www.wikidata.org/wiki/Q488212","display_name":"Microsatellite instability","level":5,"score":0.2906000018119812},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.2741999924182892},{"id":"https://openalex.org/C179185449","wikidata":"https://www.wikidata.org/wiki/Q219699","display_name":"Suppressor","level":3,"score":0.26109999418258667},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.2506999969482422}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016147","descriptor_name":"Genes, Tumor Suppressor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/j.ajhg.2026.08.003","doi":"https://doi.org/10.1016/j.ajhg.2026.08.003","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2026.08.003","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:42641600","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42641600","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13508591","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13508591/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},{"id":"pmh:oai:digitalcommons.library.tmc.edu:baylor_docs-9048","doi":null,"is_oa":true,"landing_page_url":"https://digitalcommons.library.tmc.edu/baylor_docs/8222","pdf_url":"https://digitalcommons.library.tmc.edu/context/baylor_docs/article/9048/viewcontent/nihms_2202118_compressed.pdf","source":{"id":"https://openalex.org/S4377196655","display_name":"Digital Commons-TMC (Texas Medical Center)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1337852284","host_organization_name":"Texas Medical Center","host_organization_lineage":["https://openalex.org/I1337852284"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Faculty, Staff and Students Publications","raw_type":"text"}],"best_oa_location":{"id":"doi:10.1016/j.ajhg.2026.08.003","doi":"https://doi.org/10.1016/j.ajhg.2026.08.003","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2026.08.003","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5465708471","display_name":null,"funder_award_id":"CA125123","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G7015117454","display_name":null,"funder_award_id":"10/7/2024","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"},{"id":"https://openalex.org/G8439629300","display_name":null,"funder_award_id":"CA125123","funder_id":"https://openalex.org/F4320337355","funder_display_name":"National Institute of Allergy and Infectious Diseases"},{"id":"https://openalex.org/G9000240210","display_name":null,"funder_award_id":"CA125123","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000856728","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA008748","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000872808","display_name":"Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)","funder_award_id":"U24HG009649","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000902408","display_name":"Baylor College of Medicine Cancer Center - Cancer Center Support Grant","funder_award_id":"P30CA125123","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320310129","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34"},{"id":"https://openalex.org/F4320310591","display_name":"Dan L. Duncan Cancer Center, Baylor College of Medicine","ror":"https://ror.org/02pttbw34"},{"id":"https://openalex.org/F4320324262","display_name":"Birla Institute of Scientific Research","ror":"https://ror.org/0203yhg37"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337355","display_name":"National Institute of Allergy and Infectious Diseases","ror":"https://ror.org/043z4tv69"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":66,"referenced_works":["https://openalex.org/W1835750525","https://openalex.org/W1965151932","https://openalex.org/W1975062706","https://openalex.org/W2011301426","https://openalex.org/W2018540952","https://openalex.org/W2032320097","https://openalex.org/W2041099944","https://openalex.org/W2050345155","https://openalex.org/W2051978340","https://openalex.org/W2064509393","https://openalex.org/W2077858999","https://openalex.org/W2114843025","https://openalex.org/W2120377636","https://openalex.org/W2136651434","https://openalex.org/W2149441684","https://openalex.org/W2156443053","https://openalex.org/W2162905294","https://openalex.org/W2177605184","https://openalex.org/W2181523240","https://openalex.org/W2187343514","https://openalex.org/W2309021002","https://openalex.org/W2342249984","https://openalex.org/W2417483443","https://openalex.org/W2614443510","https://openalex.org/W2621081192","https://openalex.org/W2735913246","https://openalex.org/W2760942750","https://openalex.org/W2767232866","https://openalex.org/W2770026599","https://openalex.org/W2796153844","https://openalex.org/W2796208126","https://openalex.org/W2894573839","https://openalex.org/W2895855977","https://openalex.org/W2896832111","https://openalex.org/W2898789672","https://openalex.org/W2962909860","https://openalex.org/W2968719262","https://openalex.org/W2990427812","https://openalex.org/W3003257820","https://openalex.org/W3003949123","https://openalex.org/W3014642899","https://openalex.org/W3022071200","https://openalex.org/W3035965352","https://openalex.org/W3045929934","https://openalex.org/W3087050969","https://openalex.org/W3111847480","https://openalex.org/W3115988811","https://openalex.org/W3128261063","https://openalex.org/W3131728774","https://openalex.org/W3175643852","https://openalex.org/W3177914501","https://openalex.org/W3207939800","https://openalex.org/W3213141942","https://openalex.org/W4224014283","https://openalex.org/W4226412970","https://openalex.org/W4293155700","https://openalex.org/W4306353191","https://openalex.org/W4311845006","https://openalex.org/W4361294676","https://openalex.org/W4387728976","https://openalex.org/W4389767336","https://openalex.org/W4391925537","https://openalex.org/W4405565047","https://openalex.org/W4406097986","https://openalex.org/W4412438976","https://openalex.org/W4412938523"],"related_works":["https://openalex.org/W7132856933","https://openalex.org/W7123801855","https://openalex.org/W6999362064","https://openalex.org/W2064509393","https://openalex.org/W3095413403","https://openalex.org/W2546798761","https://openalex.org/W2782362214","https://openalex.org/W2946508745","https://openalex.org/W3033818528","https://openalex.org/W4299661633"],"abstract_inverted_index":{"Germline":[0,167,207],"and":[1,20,28,45,105,117,168,189,222,240],"somatic":[2,61,90,109,121,163,169,188,193,223,241],"cancer":[3],"variants":[4,53,63,72,151,224],"in":[5,25,54,136,184,198,202],"tumor":[6,62,130],"suppressor":[7],"genes":[8,18],"(TSGs)":[9],"share":[10],"loss-of-function":[11],"mechanisms,":[12],"but":[13],"studies":[14],"of":[15,81,162,181,225,252],"a":[16],"few":[17],"(DICER1":[19],"CEBPA)":[21],"have":[22],"demonstrated":[23],"differences":[24],"variant":[26,82],"consequence":[27],"location.":[29],"To":[30],"systematically":[31],"assess":[32],"whether":[33],"TSGs":[34,76,114,148,186,226],"display":[35],"distinct":[36,157],"mutational":[37,242],"patterns,":[38],"we":[39],"leveraged":[40],"large":[41],"public":[42],"genetic":[43,218],"databases":[44],"compared":[46],"32,941":[47],"high-quality":[48],"pathogenic/likely":[49],"pathogenic":[50],"(P/LP)":[51],"germline":[52,150,221],"ClinVar,":[55],"with":[56,88,142,178,204,230],"12,907":[57],"oncogenic/likely":[58],"oncogenic":[59],"(O/LO)":[60],"from":[64,92,158,238],"cBioPortal":[65],"across":[66,175],"40":[67],"TSGs.":[68],"Only":[69],"3,863":[70],"(9.2%)":[71],"were":[73],"shared.":[74],"Eighteen":[75],"showed":[77],"significantly":[78],"different":[79,232],"distributions":[80],"occurrences":[83],"by":[84,129,235],"molecular":[85],"consequence,":[86],"replicated":[87],"non-overlapping":[89],"data":[91,164],"the":[93,125,159],"COSMIC":[94],"database":[95],"(chi-squared":[96],"tests,":[97],"false":[98],"discovery":[99],"rate":[100],"=":[101],"5%).":[102],"DICER1,":[103],"TP53,":[104],"SMAD4":[106],"displayed":[107],"excess":[108,120,133],"missense":[110],"events,":[111],"while":[112],"nine":[113],"(e.g.,":[115],"RB1":[116],"APC)":[118],"contained":[119,195],"stop-gain":[122,134],"events":[123,135,170],"throughout":[124],"coding":[126],"sequence.":[127],"Analysis":[128],"type":[131],"revealed":[132],"tissues":[137],"exposed":[138],"to":[139,153],"environmental":[140],"mutagens":[141],"corresponding":[143],"mutation":[144],"signatures.":[145],"For":[146],"several":[147],"(WT1),":[149],"predispose":[152],"tumors":[154,203],"(Wilms'":[155],"tumor)":[156],"majority":[160],"source":[161],"(myeloid":[165],"leukemia).":[166],"are":[171],"also":[172],"distributed":[173],"unevenly":[174],"cDNA":[176],"locations,":[177],"103":[179],"regions":[180],"preferential":[182],"clustering":[183],"39":[185],"(78":[187],"25":[190],"germline).":[191],"Twenty":[192],"clusters":[194,208],"recurring":[196],"frameshifts":[197],"homopolymer":[199],"runs,":[200],"many":[201],"microsatellite":[205],"instability.":[206],"contain":[209],"more":[210,248],"germline-exclusive":[211],"variants,":[212],"some":[213],"driving":[214],"non-cancer":[215],"phenotypes":[216],"reflecting":[217],"pleiotropy.":[219],"Altogether,":[220],"represent":[227],"unique":[228],"sets":[229],"substantially":[231],"patterns":[233],"shaped":[234],"selection":[236],"pressures":[237],"gene-specific":[239],"mechanisms.":[243],"Characterizing":[244],"these":[245],"distinctions":[246],"enables":[247],"accurate":[249],"clinical":[250],"interpretation":[251],"TSG":[253],"variants.":[254]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2026-08-26T00:00:00"}
