{"id":"https://openalex.org/W2741587307","doi":"https://doi.org/10.1158/1538-7445.am2017-1310","title":"Abstract 1310: Identification of pleiotropic cancer susceptibility variants from genome-wide association studies reveals functional characteristics","display_name":"Abstract 1310: Identification of pleiotropic cancer susceptibility variants from genome-wide association studies reveals functional characteristics","publication_year":2017,"publication_date":"2017-07-01","ids":{"openalex":"https://openalex.org/W2741587307","doi":"https://doi.org/10.1158/1538-7445.am2017-1310","mag":"2741587307"},"language":"en","primary_location":{"id":"doi:10.1158/1538-7445.am2017-1310","doi":"https://doi.org/10.1158/1538-7445.am2017-1310","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.am2017-1310","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/A5063384458","display_name":"Yi\u2010Hsuan Wu","orcid":"https://orcid.org/0000-0003-2366-8268","observed_orcids":["https://orcid.org/0000-0003-2366-8268"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yi-Hsuan Wu","raw_affiliation_strings":["1University of California, San Francisco, San Francisco, CA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of California, San Francisco, San Francisco, CA;","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047242356","display_name":"Rebecca E. Graff","orcid":"https://orcid.org/0000-0003-0316-8303","observed_orcids":["https://orcid.org/0000-0003-0316-8303"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rebecca E. Graff","raw_affiliation_strings":["1University of California, San Francisco, San Francisco, CA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of California, San Francisco, San Francisco, CA;","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029324701","display_name":"Michael N. Passarelli","orcid":"https://orcid.org/0000-0002-6804-2528","observed_orcids":["https://orcid.org/0000-0002-6804-2528"]},"institutions":[{"id":"https://openalex.org/I107672454","display_name":"Dartmouth College","ror":"https://ror.org/049s0rh22","country_code":"US","type":"education","lineage":["https://openalex.org/I107672454"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael N. Passarelli","raw_affiliation_strings":["2Geisel School of Medicine, Dartmouth College, Hanover, NH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Geisel School of Medicine, Dartmouth College, Hanover, NH","institution_ids":["https://openalex.org/I107672454"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051264184","display_name":"Thomas J. Hoffmann","orcid":"https://orcid.org/0000-0001-6893-4449","observed_orcids":["https://orcid.org/0000-0001-6893-4449"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas J. Hoffmann","raw_affiliation_strings":["1University of California, San Francisco, San Francisco, CA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of California, San Francisco, San Francisco, CA;","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057537193","display_name":"Elad Ziv","orcid":"https://orcid.org/0000-0002-2324-2884","observed_orcids":["https://orcid.org/0000-0002-2324-2884"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elad Ziv","raw_affiliation_strings":["1University of California, San Francisco, San Francisco, CA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of California, San Francisco, San Francisco, CA;","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5035070420","display_name":"John S. Witte","orcid":"https://orcid.org/0000-0003-0146-1434","observed_orcids":["https://orcid.org/0000-0003-0146-1434"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John S. Witte","raw_affiliation_strings":["1University of California, San Francisco, San Francisco, CA;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1University of California, San Francisco, San Francisco, CA;","institution_ids":["https://openalex.org/I180670191"]}]}],"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":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"77","issue":"13_Supplement","first_page":"1310","last_page":"1310"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9916999936103821,"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"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9916999936103821,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.0020000000949949026,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.0007999999797903001,"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/pleiotropy","display_name":"pleiotropy","score":0.9200000166893005},{"id":"https://openalex.org/keywords/clptm1l","display_name":"CLPTM1L","score":0.9490000009536743},{"id":"https://openalex.org/keywords/terc","display_name":"TERC","score":0.8339999914169312},{"id":"https://openalex.org/keywords/tert","display_name":"telomerase reverse transcriptase","score":0.9919999837875366},{"id":"https://openalex.org/keywords/leukemia","display_name":"leukemia","score":0.5059999823570251},{"id":"https://openalex.org/keywords/multiple-myeloma","display_name":"multiple myeloma","score":0.902999997138977},{"id":"https://openalex.org/keywords/colorectal-cancer","display_name":"colorectal cancer","score":0.8019999861717224},{"id":"https://openalex.org/keywords/lung-cancer","display_name":"lung cancer","score":0.7549999952316284},{"id":"https://openalex.org/keywords/pancreatic-cancer","display_name":"pancreatic cancer","score":0.6209999918937683},{"id":"https://openalex.org/keywords/skin-cancer","display_name":"skin cancer","score":0.8040000200271606},{"id":"https://openalex.org/keywords/bladder-cancer","display_name":"bladder cancer","score":0.9850000143051147},{"id":"https://openalex.org/keywords/variant-clustering","display_name":"variant clustering","score":0.35199999809265137},{"id":"https://openalex.org/keywords/functional-enrichment-analysis","display_name":"functional enrichment","score":0.6869999766349792},{"id":"https://openalex.org/keywords/tumor-location","display_name":"tumor location","score":0.375},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.6159999966621399},{"id":"https://openalex.org/keywords/variant-effect-prediction","display_name":"variant effect prediction","score":0.49900001287460327}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.760319709777832},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.5705729722976685},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5535889267921448},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5399264693260193},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5340311527252197},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5216572284698486},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.4808005392551422},{"id":"https://openalex.org/C141674004","wikidata":"https://www.wikidata.org/wiki/Q1344256","display_name":"Ensembl","level":5,"score":0.4291534423828125},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.37474846839904785},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.3483017683029175},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34620317816734314},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.33940136432647705},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.32472872734069824},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.30101317167282104},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.280086874961853}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1538-7445.am2017-1310","doi":"https://doi.org/10.1158/1538-7445.am2017-1310","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1538-7445.am2017-1310","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":[{"score":0.9940000176429749,"display_name":"Good health and well-being","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/W2770443008","https://openalex.org/W2088335869","https://openalex.org/W7203773259","https://openalex.org/W7100228556","https://openalex.org/W7211894307","https://openalex.org/W3083488708","https://openalex.org/W4327684383","https://openalex.org/W4391486154","https://openalex.org/W2562602893","https://openalex.org/W2999379647"],"abstract_inverted_index":{"Abstract":[0],"Background:":[1],"There":[2],"exists":[3],"compelling":[4],"evidence":[5],"that":[6,283],"some":[7],"genetic":[8,37,343,375],"variants":[9,38,82,109,195,282,291,308,344,407],"are":[10,28],"associated":[11,39,119,215,239,268],"with":[12,40,62,120,216,240,269],"the":[13,21,25,33,41,68,94,102,121,129,141,157,229,235,258,264,279,285,354,368,419],"risk":[14,42,122,151,190,217],"of":[15,24,43,98,101,123,156,211,218,324,356,370,403,418],"multiple":[16,44,124,242,378],"cancers":[17,125,371],"(i.e.,":[18],"pleiotropy).":[19],"However,":[20],"biological":[22,358],"mechanisms":[23,359],"pleiotropic":[26,208,287,346,404],"effects":[27,35,347],"unclear.":[29],"Thus,":[30],"we":[31,185,205],"investigated":[32],"functional":[34,138,413],"for":[36,137,192,377,422],"cancers.":[45,363],"Methods:":[46],"The":[47,153,306],"National":[48],"Human":[49],"Genome":[50],"Research":[51,424],"Institute-European":[52],"Bioinformatics":[53],"Institute":[54],"(NHGRI-EBI)":[55],"GWAS":[56],"Catalog":[57],"contains":[58],"28,643":[59],"variant-trait":[60],"associations":[61,80,158,191],"p":[63],"<":[64],"10-5.":[65],"We":[66,147],"utilized":[67],"Experimental":[69],"Factor":[70],"Ontology":[71],"(EFO)":[72],"to":[73,310,319,327,361],"classify":[74],"cancer":[75,84,199,221,349,382,405],"traits":[76],"and":[77,83,135,176,196,226,244,247,255,271,275,297,331,340,380],"obtained":[78],"all":[79],"between":[81],"risk.":[85,350],"Based":[86],"on":[87,348,373],"pairwise":[88],"linkage":[89],"disequilibrium":[90],"(LD)":[91],"determined":[92],"from":[93,234,263,408],"European":[95,162],"(EUR)":[96],"population":[97],"Phase":[99],"3":[100],"1000":[103],"Genomes":[104],"Project":[105],"in":[106,161,166,170,178,302,316],"LDlink,":[107],"correlated":[108,203],"(R-squared":[110],"\u2265":[111],"0.8)":[112],"were":[113,126,159,214,292,314],"clustered":[114],"into":[115],"groups.":[116],"Variant":[117,131,223,250],"groups":[118],"annotated":[127],"using":[128,140],"Ensembl":[130],"Effect":[132],"Predictor":[133],"(VEP),":[134],"tested":[136],"enrichment":[139],"DAVID":[142],"Functional":[143],"Annotation":[144],"Tool.":[145],"Results:":[146],"identified":[148,206,339],"1,456":[149],"variant-cancer":[150,189],"associations.":[152],"majority":[154],"(57.1%)":[155],"discovered":[160],"ancestry":[163],"populations,":[164],"19.0%":[165],"East":[167],"Asians,":[168],"7.9%":[169],"an":[171,303],"African":[172],"Americans":[173],"or":[174,180],"Afro-Caribbeans,":[175],"7.1%":[177],"Hispanics":[179],"Latin":[181],"Americans.":[182],"Removing":[183],"duplicates,":[184],"found":[186],"1,034":[187],"unique":[188,194,198,281],"1,005":[193],"27":[197],"sites.":[200,222],"After":[201],"clustering":[202],"variants,":[204],"29":[207,286],"variant":[209,288,300],"groups,":[210,289],"which":[212,313],"2":[213],"five":[219],"different":[220,362],"group":[224,251],"rs10936599":[225],"rs12696304":[227],"within":[228,257,293],"MYNN":[230],"gene":[231,260],"(7.8":[232],"kb":[233,262],"TERC":[236],"gene)":[237,266],"was":[238,267,301],"leukemia,":[241,270],"myeloma,":[243],"colorectal,":[245],"skin,":[246,274],"bladder":[248,276],"cancer.":[249,277],"rs31489,":[252],"rs31490,":[253],"rs401681,":[254],"rs4975616":[256],"CLPTM1L":[259],"(22.8":[261],"TERT":[265],"lung,":[272],"pancreatic,":[273],"Among":[278],"42":[280],"composed":[284],"41":[290,307],"a":[294],"known":[295],"gene,":[296],"only":[298],"1":[299],"intergenic":[304],"region.":[305],"mapped":[309],"26":[311],"genes,":[312],"enriched":[315],"cellular":[317],"response":[318],"hypoxia":[320],"(p=":[321,329,334],"0.0071),":[322,330],"establishment":[323],"protein":[325],"localization":[326],"telomere":[328],"ubl":[332],"conjugation":[333],"0.0072).":[335],"Conclusion:":[336],"This":[337],"study":[338],"functionally":[341],"characterized":[342],"showing":[345],"Our":[351],"findings":[352],"improve":[353],"understanding":[355],"shared":[357],"common":[360],"Clinical":[364],"implications":[365],"could":[366],"include":[367],"classification":[369],"based":[372],"etiology,":[374],"testing":[376],"cancers,":[379],"repurposing":[381],"treatments.":[383],"Citation":[384],"Format:":[385],"Yi-Hsuan":[386],"Wu,":[387],"Rebecca":[388],"E.":[389],"Graff,":[390],"Michael":[391],"N.":[392],"Passarelli,":[393],"Thomas":[394],"J.":[395],"Hoffmann,":[396],"Elad":[397],"Ziv,":[398],"John":[399],"S.":[400],"Witte.":[401],"Identification":[402],"susceptibility":[406],"genome-wide":[409],"association":[410],"studies":[411],"reveals":[412],"characteristics":[414],"[abstract].":[415],"In:":[416],"Proceedings":[417],"American":[420],"Association":[421],"Cancer":[423,436],"Annual":[425],"Meeting":[426],"2017;":[427],"2017":[428],"Apr":[429],"1-5;":[430],"Washington,":[431],"DC.":[432],"Philadelphia":[433],"(PA):":[434],"AACR;":[435],"Res":[437],"2017;77(13":[438],"Suppl):Abstract":[439],"nr":[440],"1310.":[441],"doi:10.1158/1538-7445.AM2017-1310":[442]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2017-08-08T00:00:00"}