{"id":"https://openalex.org/W2946989180","doi":"https://doi.org/10.1200/jco.2019.37.15_suppl.1019","title":"Characterization of mutational processes in ER+ metastatic breast cancer.","display_name":"Characterization of mutational processes in ER+ metastatic breast cancer.","publication_year":2019,"publication_date":"2019-05-20","ids":{"openalex":"https://openalex.org/W2946989180","doi":"https://doi.org/10.1200/jco.2019.37.15_suppl.1019","mag":"2946989180"},"language":"en","primary_location":{"id":"doi:10.1200/jco.2019.37.15_suppl.1019","doi":"https://doi.org/10.1200/jco.2019.37.15_suppl.1019","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2019.37.15_suppl.1019","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001689488","display_name":"Jorge E. Buendia-Buendia","orcid":"https://orcid.org/0000-0002-9675-6827","observed_orcids":["https://orcid.org/0000-0002-9675-6827"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jorge Buendia-Buendia","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA;","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083324690","display_name":"Ofir Cohen","orcid":"https://orcid.org/0000-0002-0043-6838","observed_orcids":["https://orcid.org/0000-0002-0043-6838"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ofir Cohen","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA;","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088232181","display_name":"Dewey Kim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dewey Kim","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA;","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010075419","display_name":"Esha Jain","orcid":"https://orcid.org/0000-0003-1201-2052","observed_orcids":["https://orcid.org/0000-0003-1201-2052"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Esha Jain","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA;","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070245248","display_name":"Eric P. Winer","orcid":"https://orcid.org/0000-0002-8819-1723","observed_orcids":["https://orcid.org/0000-0002-8819-1723"]},"institutions":[{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric P. Winer","raw_affiliation_strings":["Dana-Farber Cancer Institute, Boston, MA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dana-Farber Cancer Institute, Boston, MA;","institution_ids":["https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022319770","display_name":"NU Lin","orcid":"https://orcid.org/0000-0003-2263-5413","observed_orcids":["https://orcid.org/0000-0003-2263-5413"]},"institutions":[{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nancy U. Lin","raw_affiliation_strings":["Dana-Farber Cancer Institute, Boston, MA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dana-Farber Cancer Institute, Boston, MA;","institution_ids":["https://openalex.org/I4210117453"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5068721624","display_name":"Nikhil Wagle","orcid":"https://orcid.org/0000-0003-3332-9438","observed_orcids":["https://orcid.org/0000-0003-3332-9438"]},"institutions":[{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nikhil Wagle","raw_affiliation_strings":["Dana-Farber Cancer Institute, Boston, MA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dana-Farber Cancer Institute, Boston, MA;","institution_ids":["https://openalex.org/I4210117453"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"37","issue":"15_suppl","first_page":"1019","last_page":"1019"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9926999807357788,"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":0.9926999807357788,"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/T10769","display_name":"BRCA gene mutations in cancer","score":0.000699999975040555,"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/T12820","display_name":"Chromatin Remodeling and Cancer","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/mutational-signatures","display_name":"mutational signatures","score":0.8209999799728394},{"id":"https://openalex.org/keywords/metastatic-breast-cancer","display_name":"metastatic breast cancer","score":0.9279999732971191},{"id":"https://openalex.org/keywords/estrogen-receptor-positive-breast-cancer","display_name":"estrogen receptor-positive breast cancer","score":0.9380000233650208},{"id":"https://openalex.org/keywords/apobec-mutational-signature","display_name":"APOBEC mutational signature","score":0.8169999718666077},{"id":"https://openalex.org/keywords/cytidine-deaminase","display_name":"cytidine deaminase","score":0.8569999933242798},{"id":"https://openalex.org/keywords/endocrine-resistance","display_name":"endocrine therapy resistance","score":0.8989999890327454},{"id":"https://openalex.org/keywords/nucleotide-excision-repair","display_name":"nucleotide excision repair","score":0.9729999899864197},{"id":"https://openalex.org/keywords/acquired-mutations","display_name":"acquired mutations","score":0.46299999952316284},{"id":"https://openalex.org/keywords/tumor-evolution","display_name":"tumor evolution","score":0.7279999852180481},{"id":"https://openalex.org/keywords/primary-versus-metastatic-tumors","display_name":"primary tumor versus metastasis","score":0.6470000147819519},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.6510000228881836},{"id":"https://openalex.org/keywords/mutation-burden","display_name":"mutational burden","score":0.6110000014305115},{"id":"https://openalex.org/keywords/clonal-evolution","display_name":"clonal evolution","score":0.5490000247955322},{"id":"https://openalex.org/keywords/normal-aging","display_name":"normal aging","score":0.3050000071525574}],"concepts":[{"id":"https://openalex.org/C2776162770","wikidata":"https://www.wikidata.org/wiki/Q4653351","display_name":"APOBEC","level":4,"score":0.6703258752822876},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.6530478000640869},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5760669112205505},{"id":"https://openalex.org/C2775930923","wikidata":"https://www.wikidata.org/wiki/Q12859063","display_name":"Metastatic breast cancer","level":4,"score":0.5540555715560913},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5260457992553711},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.5195236802101135},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5003311634063721},{"id":"https://openalex.org/C2780283643","wikidata":"https://www.wikidata.org/wiki/Q2110267","display_name":"Primary tumor","level":4,"score":0.4513687789440155},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.44882163405418396},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3439907431602478},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.33395808935165405},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3128499388694763},{"id":"https://openalex.org/C2779013556","wikidata":"https://www.wikidata.org/wiki/Q181876","display_name":"Metastasis","level":3,"score":0.28377288579940796},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2709049582481384},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2292710542678833},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.18660089373588562}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1200/jco.2019.37.15_suppl.1019","doi":"https://doi.org/10.1200/jco.2019.37.15_suppl.1019","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2019.37.15_suppl.1019","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2789584563","https://openalex.org/W2790958037","https://openalex.org/W2900288204","https://openalex.org/W2918438915","https://openalex.org/W4408096679","https://openalex.org/W2954598119","https://openalex.org/W2919815814","https://openalex.org/W4410447694","https://openalex.org/W4411290060","https://openalex.org/W4221112660"],"abstract_inverted_index":{"1019":[0],"Background:":[1],"Diverse":[2],"mutational":[3,16,54,98,111,122,224,368],"processes":[4,22,55,369],"are":[5,351],"active":[6],"at":[7,226],"different":[8],"stages":[9],"of":[10,30,81,97,107,124,151,157,170,182,186,197,203,223,233,260,275,333,373,378],"cancer":[11,19,44,59],"development":[12],"and":[13,33,85,189,238,291,323,365,376],"cause":[14],"the":[15,53,89,104,121,161,183,204,227,231,249,280,360],"burden":[17],"in":[18,40,56,173,191,210,230,248,254,286,303,336],"cells.":[20],"These":[21],"leave":[23],"distinctive":[24],"signatures,":[25],"characterized":[26],"by":[27,102,310,321],"varying":[28],"frequencies":[29],"nucleotide":[31],"substitutions":[32],"their":[34],"flanking":[35],"base-pairs.":[36],"Mutational":[37],"signatures":[38,99,112,225,246,262],"found":[39,258],"early":[41,302,340],"stage":[42,341],"breast":[43,58,140,164,217,342],"have":[45],"been":[46],"described,":[47],"but":[48],"less":[49],"is":[50],"known":[51],"about":[52],"metastatic":[57,70,237,250],"(MBC).":[60],"Methods:":[61],"We":[62],"performed":[63,86,134],"whole":[64],"exome":[65],"sequencing":[66],"(WES)":[67],"on":[68,88,135],"209":[69],"tumor":[71,126,304,349],"biopsies":[72,159],"from":[73,166,339],"patients":[74,234],"with":[75,235],"ER+":[76,139,163,216],"MBC.":[77,379],"In":[78],"a":[79],"subset":[80,232],"patients,":[82],"we":[83,257],"obtained":[84],"WES":[87],"matched":[90,239],"primary":[91,138,162,240,290],"biopsy":[92],"(n":[93],"=":[94,177,220,266,271,295],"62).":[95],"Decomposition":[96,222],"was":[100,132,208,284],"done":[101],"determining":[103],"linear":[105],"combination":[106],"30":[108],"previously":[109],"reported":[110],"(Alexandrov":[113],"et":[114],"al.,":[115],"2013)":[116],"that":[117,299],"most":[118],"accurately":[119],"reconstructs":[120],"profile":[123,332],"each":[125],"sample.":[127],"For":[128],"comparison,":[129],"signature":[130,152],"decomposition":[131],"also":[133],"695":[136],"treatment-na\u00efve":[137],"cancers":[141,165],"form":[142],"The":[143,331],"Cancer":[144],"Genome":[145],"Atlas":[146],"(TCGA).":[147],"Results:":[148],"Cohort-level":[149],"comparison":[150],"activity":[153,181,202,274],"between":[154,289,362],"our":[155],"cohort":[156],"MBC":[158,174,211,292,337],"versus":[160],"TCGA":[167,215],"demonstrated":[168],"enrichment":[169,259],"Signature":[171,198,276],"13":[172],"samples":[175,241,293],"(q":[176,219,294],"0.002),":[178],"attributed":[179,278],"to":[180,193,201,214,244,279,367],"APOBEC":[184,261],"family":[185],"cytidine":[187],"deaminases":[188],"implicated":[190],"resistance":[192],"endocrine":[194],"therapies.":[195],"Activity":[196],"22,":[199],"associated":[200],"nucleotide-excision":[205],"repair":[206],"mechanism,":[207],"depleted":[209],"tumors":[212,218],"relative":[213],"0.02).":[221],"clone":[228],"level":[229],"both":[236],"allowed":[242],"us":[243],"infer":[245],"acquired":[247,255,326],"setting.":[251],"Among":[252],"mutations":[253,287,300,315,335,345],"clones,":[256],"(Sig.":[263],"2,":[264],"q":[265,270],"0.018;":[267],"Sig.":[268],"13,":[269],"0.003).":[272],"Conversely,":[273],"1,":[277],"normal":[281],"aging":[282],"process,":[283],"enriched":[285],"shared":[288],"0.004).":[296],"This":[297],"suggests":[298],"developed":[301],"evolution":[305,350],"may":[306,316],"be":[307],"driven":[308],"primarily":[309],"natural":[311],"processes,":[312],"while":[313],"later":[314],"reflect":[317],"selective":[318],"pressures":[319],"imposed":[320],"therapies":[322,366],"cellular":[324],"defects":[325],"during":[327,348],"disease":[328],"progression.":[329],"Conclusions:":[330],"somatic":[334],"differs":[338],"cancer.":[343],"APOBEC-related":[344],"arising":[346],"late":[347],"one":[352],"possible":[353],"mechanism":[354],"for":[355],"this":[356],"difference.":[357],"Further":[358],"studying":[359],"associations":[361],"clinical":[363,374],"features":[364],"could":[370],"inform":[371],"design":[372],"trials":[375],"management":[377]},"counts_by_year":[{"year":2023,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2019-06-07T00:00:00"}
