{"id":"https://openalex.org/W2594878071","doi":"https://doi.org/10.1158/1538-7445.sabcs16-p1-05-04","title":"Abstract P1-05-04: Intra-tumor genetic heterogeneity and histologic heterogeneity within metaplastic breast cancers: Genotypic-phenotypic correlations","display_name":"Abstract P1-05-04: Intra-tumor genetic heterogeneity and histologic heterogeneity within metaplastic breast cancers: Genotypic-phenotypic correlations","publication_year":2017,"publication_date":"2017-02-15","ids":{"openalex":"https://openalex.org/W2594878071","doi":"https://doi.org/10.1158/1538-7445.sabcs16-p1-05-04","mag":"2594878071"},"language":"en","primary_location":{"id":"doi:10.1158/1538-7445.sabcs16-p1-05-04","doi":"https://doi.org/10.1158/1538-7445.sabcs16-p1-05-04","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.sabcs16-p1-05-04","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"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/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","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/A5064345988","display_name":"FC Geyer","orcid":null,"observed_orcids":[]},"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":"FC Geyer","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068159052","display_name":"Karly A. Burke","orcid":null,"observed_orcids":[]},"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":"KA Burke","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061694184","display_name":"Anastasios D. Papanastatiou","orcid":null,"observed_orcids":[]},"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":"AD Papanastatiou","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040402939","display_name":"GS Macedo","orcid":null,"observed_orcids":[]},"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":"GS Macedo","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080183722","display_name":"Edi Brogi","orcid":"https://orcid.org/0000-0003-4737-8468","observed_orcids":["https://orcid.org/0000-0003-4737-8468"]},"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":"E Brogi","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039225060","display_name":"Larry Norton","orcid":"https://orcid.org/0000-0003-3701-9250","observed_orcids":["https://orcid.org/0000-0003-3701-9250"]},"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":"L Norton","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018328729","display_name":"YH Wen","orcid":"https://orcid.org/0000-0002-9775-6351","observed_orcids":["https://orcid.org/0000-0002-9775-6351"]},"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":"YH Wen","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040506127","display_name":"Britta Weigelt","orcid":"https://orcid.org/0000-0001-9927-1270","observed_orcids":["https://orcid.org/0000-0001-9927-1270"]},"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":"B Weigelt","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108563609","display_name":"JS Reis\u2010Filho","orcid":null,"observed_orcids":[]},"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":"JS Reis-Filho","raw_affiliation_strings":["Memorial Sloan Kettering Cancer Center, New York, NY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Memorial Sloan Kettering Cancer Center, New York, NY","institution_ids":["https://openalex.org/I1334819555"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1334819555"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"77","issue":"4_Supplement","first_page":"P1","last_page":"05"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9477999806404114,"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":0.9477999806404114,"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/T11134","display_name":"Breast Lesions and Carcinomas","score":0.030500000342726707,"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"}},{"id":"https://openalex.org/T10183","display_name":"Breast Cancer Treatment Studies","score":0.006500000134110451,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/metaplastic-breast-carcinoma","display_name":"metaplastic breast carcinoma","score":0.9409999847412109},{"id":"https://openalex.org/keywords/intratumor-heterogeneity","display_name":"intratumoral heterogeneity","score":0.9369999766349792},{"id":"https://openalex.org/keywords/histological-heterogeneity","display_name":"histological heterogeneity","score":0.9340000152587891},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.7149999737739563},{"id":"https://openalex.org/keywords/mutational-signatures","display_name":"mutational signatures","score":0.8759999871253967},{"id":"https://openalex.org/keywords/tp53-mutation","display_name":"TP53 mutation","score":0.8510000109672546},{"id":"https://openalex.org/keywords/pik3ca","display_name":"PIK3CA","score":0.8650000095367432},{"id":"https://openalex.org/keywords/pik3r1","display_name":"PIK3R1","score":0.9200000166893005},{"id":"https://openalex.org/keywords/pi3k-signaling","display_name":"PI3K signaling","score":0.6990000009536743},{"id":"https://openalex.org/keywords/claudin-low-subtype","display_name":"claudin-low subtype","score":0.6660000085830688},{"id":"https://openalex.org/keywords/basal-like-subtype","display_name":"basal-like subtype","score":0.9079999923706055},{"id":"https://openalex.org/keywords/microdissection","display_name":"microdissection","score":0.5460000038146973},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.3619999885559082},{"id":"https://openalex.org/keywords/oncogenes","display_name":"oncogenes","score":0.4950000047683716}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.712409257888794},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.610537588596344},{"id":"https://openalex.org/C113968399","wikidata":"https://www.wikidata.org/wiki/Q7559241","display_name":"Somatic evolution in cancer","level":3,"score":0.5575070381164551},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.5536101460456848},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5005021095275879},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.5000128746032715},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.4622511565685272},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.45897310972213745},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.44747138023376465},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4299984574317932},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3795376121997833},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.36867982149124146},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2840813398361206},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.13970336318016052},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1538-7445.sabcs16-p1-05-04","doi":"https://doi.org/10.1158/1538-7445.sabcs16-p1-05-04","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.sabcs16-p1-05-04","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"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/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2012751102","https://openalex.org/W2943858037","https://openalex.org/W2740714401","https://openalex.org/W2768229822","https://openalex.org/W2607223351","https://openalex.org/W2585556345","https://openalex.org/W2405191877","https://openalex.org/W2592333635","https://openalex.org/W4283262162","https://openalex.org/W3089645510"],"abstract_inverted_index":{"Abstract":[0],"Introduction:":[1],"Metaplastic":[2],"breast":[3,458],"carcinoma":[4],"(MBC)":[5],"is":[6,22,391],"characterized":[7],"by":[8,82,261,425],"the":[9,32,107,112,128,299,319,368,412,466],"presence":[10],"of":[11,42,49,109,111,118,127,187,207,237,245,251,253,283,285,301,312,321,327,362,401,465],"neoplastic":[12],"cells":[13],"displaying":[14],"squamous":[15,36,100],"and/or":[16],"mesenchymal":[17],"differentiation.":[18],"Morphologic":[19],"intra-tumor":[20,388],"heterogeneity":[21,452,455],"frequent":[23],"in":[24,122,167,218,264,271,316,345,367],"MBCs":[25,39,47,57,78,91,384],"and":[26,37,86,140,175,192,262,291,333,348,377,410,453],"reported":[27],"to":[28,61,71,146,243,278,380],"be":[29,80,423],"reflected":[30],"at":[31],"transcriptomic":[33],"level:":[34],"whilst":[35],"chondroid":[38],"are":[40,48],"preferentially":[41],"basal-like":[43],"subtype,":[44],"spindle":[45],"cell":[46],"claudin-low":[50],"subtype.":[51],"Likewise,":[52],"histologically":[53,74,94,204,303,395],"distinct":[54,63,75,95,116,205,360,396,415,426],"components":[55,76,96,117,206,236,361,397,416],"within":[56,77,417,456],"have":[58],"been":[59],"shown":[60],"display":[62,385],"focal":[64],"copy":[65],"number":[66],"alterations.":[67,429],"Here":[68],"we":[69],"sought":[70],"investigate":[72],"whether":[73],"would":[79],"underpinned":[81],"different":[83],"mutational":[84,87,351,369],"profiles":[85],"signatures.":[88],"Methods:":[89],"Ten":[90],"with":[92,248,280,309],"two":[93,123,125,297,302],"(spindle,":[97],"chondroid,":[98],"osseous,":[99],"and/":[101],"or":[102,171,355],"ductal)":[103],"were":[104,131,152,160,179,201,257,289,294,331,335,357,371],"retrieved":[105],"from":[106,136,241,276],"Department":[108],"Pathology":[110],"authors'":[113],"institution.":[114],"The":[115,203,350],"each":[119,208,238,363],"case":[120,209,239],"and,":[121],"cases,":[124,298],"regions":[126,305,400],"same":[129],"component":[130,200],"separately":[132],"microdissected.":[133],"DNA":[134],"extracted":[135],"tumor":[137,169,199],"samples":[138,318],"(n=22)":[139],"matched":[141],"normal":[142],"tissues":[143],"was":[144,324],"subjected":[145],"whole-exome":[147],"sequencing.":[148],"Somatic":[149,158],"genetic":[150,387,428,451],"alterations":[151],"identified":[153],"using":[154,173,181],"state-of-the-art":[155],"bioinformatics":[156],"algorithms.":[157],"mutations":[159,191,196,217,234,268,323,339,376,378],"classified":[161],"as":[162],"clonal":[163,212,263],"(i.e.,":[164,259,269],"present":[165],"virtually":[166],"all":[168,246],"cells)":[170],"subclonal":[172],"ABSOLUTE":[174],"FACETS.":[176],"Mutational":[177],"signatures":[178,352,370],"defined":[180],"non-negative":[182],"matrix":[183],"factorization.":[184],"Results:":[185],"Medians":[186],"146":[188],"(56-290)":[189],"somatic":[190,195,375,427],"108":[193],"non-synonymous":[194,290,332,338],"(39-222)":[197],"per":[198],"identified.":[202],"harbored":[210],"identical":[211],"TP53":[213],"mutations.":[214],"Additional":[215],"recurrent":[216],"cancer":[219,341],"genes":[220,226,342],"included":[221,343],"those":[222,344],"affecting":[223,340],"PI3K":[224],"pathway":[225],"(PIK3CA,":[227],"2":[228,231],"cases;":[229],"PIK3R1,":[230,346],"cases).":[232],"Shared":[233],"between":[235,359,373,394,399],"ranged":[240,275],"34%":[242],"99%":[244],"mutations,":[247,314],"a":[249,281,407],"median":[250,282,320],"84%,":[252],"which":[254,286,328,390],"24%":[255],"(12%-53%)":[256],"truncal":[258,374],"shared":[260,313],"both":[265],"components).":[266],"Private":[267,337],"found":[270],"only":[272],"one":[273],"component)":[274],"1%":[277,292],"66%,":[279],"16%,":[284],"72%":[287],"(0-100%)":[288,330],"(0-52%)":[293],"clonal.":[295,336],"In":[296],"comparison":[300],"similar":[304,402],"revealed":[306],"less":[307],"heterogeneity,":[308,389],"94%":[310],"(87%-100%)":[311],"whereas":[315],"these":[317],"private":[322],"6%":[325],"(0-13%),":[326],"70%":[329],"none":[334],"MED12":[347],"NOTCH1.":[349],"(e.g.":[353],"aging":[354],"BRCA)":[356],"concordant":[358],"case;":[364],"however,":[365],"differences":[366],"observed":[372],"restricted":[379],"individual":[381],"components.":[382],"Conclusions:":[383],"substantial":[386],"more":[392],"overt":[393],"than":[398],"histology.":[403],"Our":[404],"data":[405],"suggest":[406],"genotypic-phenotypic":[408],"correlation":[409],"corroborate":[411],"notion":[413],"that":[414],"MBCs,":[418],"although":[419],"clonally":[420],"related,":[421],"may":[422],"driven":[424],"Citation":[430],"Format:":[431],"Geyer":[432],"FC,":[433],"Burke":[434],"KA,":[435],"Papanastatiou":[436],"AD,":[437],"Macedo":[438],"GS,":[439],"Brogi":[440],"E,":[441],"Norton":[442],"L,":[443],"Wen":[444],"YH,":[445],"Weigelt":[446],"B,":[447],"Reis-Filho":[448],"JS.":[449],"Intra-tumor":[450],"histologic":[454],"metaplastic":[457],"cancers:":[459],"Genotypic-phenotypic":[460],"correlations":[461],"[abstract].":[462],"In:":[463],"Proceedings":[464],"2016":[467,473],"San":[468,476],"Antonio":[469],"Breast":[470],"Cancer":[471,482],"Symposium;":[472],"Dec":[474],"6-10;":[475],"Antonio,":[477],"TX.":[478],"Philadelphia":[479],"(PA):":[480],"AACR;":[481],"Res":[483],"2017;77(4":[484],"Suppl):Abstract":[485],"nr":[486],"P1-05-04.":[487]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2017-03-16T00:00:00"}