{"id":"https://openalex.org/W2052007291","doi":"https://doi.org/10.1158/1078-0432.tcmusa10-ia3-3","title":"Abstract IA3-3: Genetic testing for breast and ovarian cancer: From risk assessment to therapeutic targeting","display_name":"Abstract IA3-3: Genetic testing for breast and ovarian cancer: From risk assessment to therapeutic targeting","publication_year":2010,"publication_date":"2010-07-01","ids":{"openalex":"https://openalex.org/W2052007291","doi":"https://doi.org/10.1158/1078-0432.tcmusa10-ia3-3","mag":"2052007291"},"language":"en","primary_location":{"id":"doi:10.1158/1078-0432.tcmusa10-ia3-3","doi":"https://doi.org/10.1158/1078-0432.tcmusa10-ia3-3","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1078-0432.tcmusa10-ia3-3","pdf_url":null,"source":{"id":"https://openalex.org/S183149254","display_name":"Clinical Cancer Research","issn_l":"1078-0432","issn":["1078-0432","1557-3265"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-3","medline","norway-2"],"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":"Clinical 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/A5063299870","display_name":"Susan M. Domchek","orcid":"https://orcid.org/0000-0002-5914-7272","observed_orcids":["https://orcid.org/0000-0002-5914-7272"]},"institutions":[{"id":"https://openalex.org/I4390039297","display_name":"Abramson Cancer Center","ror":"https://ror.org/01hvpjq66","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210143392","https://openalex.org/I4390039297"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Susan M. Domchek","raw_affiliation_strings":["1Abramson Cancer Center of University of Pennsylvania, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Abramson Cancer Center of University of Pennsylvania, Philadelphia, PA","institution_ids":["https://openalex.org/I4390039297","https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5063299870"],"corresponding_institution_ids":["https://openalex.org/I4390039297","https://openalex.org/I79576946"],"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":"16","issue":"14_Supplement","first_page":"IA3","last_page":"3"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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/T11914","display_name":"PARP inhibition in cancer therapy","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"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/brca1","display_name":"BRCA1","score":0.7710000276565552},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":0.9980000257492065},{"id":"https://openalex.org/keywords/germline-testing","display_name":"germline genetic testing","score":0.871999979019165},{"id":"https://openalex.org/keywords/hereditary-breast-cancer","display_name":"hereditary breast cancer","score":0.8769999742507935},{"id":"https://openalex.org/keywords/hereditary-ovarian-cancer","display_name":"hereditary ovarian cancer","score":0.996999979019165},{"id":"https://openalex.org/keywords/cancer-risk-assessment","display_name":"cancer risk assessment","score":0.824999988079071},{"id":"https://openalex.org/keywords/salpingo-oophorectomy","display_name":"salpingo-oophorectomy","score":0.9259999990463257},{"id":"https://openalex.org/keywords/breast-mri-screening","display_name":"breast MRI screening","score":0.7390000224113464},{"id":"https://openalex.org/keywords/risk-reducing-mastectomy","display_name":"prophylactic mastectomy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/parp-inhibitors","display_name":"PARP inhibitors","score":0.7670000195503235},{"id":"https://openalex.org/keywords/synthetic-lethality","display_name":"synthetic lethality","score":0.9779999852180481},{"id":"https://openalex.org/keywords/homologous-recombination-repair","display_name":"homologous recombination repair","score":0.7870000004768372},{"id":"https://openalex.org/keywords/platinum-sensitivity","display_name":"platinum sensitivity","score":0.9629999995231628},{"id":"https://openalex.org/keywords/spindle-poisons","display_name":"spindle poisons","score":0.7770000100135803},{"id":"https://openalex.org/keywords/targeted-therapy","display_name":"targeted therapy","score":0.890999972820282}],"concepts":[{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.7400426268577576},{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.7020142078399658},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6377830505371094},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.615025520324707},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5683208107948303},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.5127871632575989},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.47951439023017883},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4698682725429535},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4591798782348633},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.4570768475532532},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.321161150932312},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2564064562320709},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20065736770629883},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19809463620185852}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1078-0432.tcmusa10-ia3-3","doi":"https://doi.org/10.1158/1078-0432.tcmusa10-ia3-3","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1078-0432.tcmusa10-ia3-3","pdf_url":null,"source":{"id":"https://openalex.org/S183149254","display_name":"Clinical Cancer Research","issn_l":"1078-0432","issn":["1078-0432","1557-3265"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-3","ki-jl-3","medline","norway-2"],"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":"Clinical Cancer Research","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.8600000143051147,"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/W2056064246","https://openalex.org/W4211208004","https://openalex.org/W3047265282","https://openalex.org/W567261565","https://openalex.org/W2169394819","https://openalex.org/W4220824317","https://openalex.org/W2129579971","https://openalex.org/W3136184517","https://openalex.org/W2049713270","https://openalex.org/W2511537300"],"abstract_inverted_index":{"Abstract":[0],"Germline":[1],"genetic":[2,42],"variation":[3],"can":[4,21,33,333],"be":[5,22,334],"used":[6,23],"in":[7,76,96,130,193,216,242,268,302,318],"a":[8,66,102,176,265,337,344],"number":[9],"of":[10,16,28,31,47,105,115,125,142,167,187,191,211,322,343,364],"ways":[11],"to":[12,24,35,54,56,85,137,184,208,227,233,252,278,287,359],"improve":[13],"the":[14,26,41,45,52,123,139,148,165,171,185,188,209,269,341,354,362],"care":[15,363],"patients.":[17,365],"First,":[18],"such":[19,219],"information":[20],"predict":[25],"development":[27,46],"disease.":[29],"Knowledge":[30],"risk":[32,104,124,347],"lead":[34,55],"targeted":[36,57],"preventative":[37],"strategies.":[38,93],"Finally,":[39],"understanding":[40],"etiology":[43],"for":[44,68,150,299,328,339,356],"an":[48,224],"individual's":[49],"cancer":[50,88,129,201],"has":[51,82,182,236,255],"potential":[53,91,149,355],"drug":[58],"development.":[59],"Inherited":[60],"BRCA1":[61,156,212,279,303,329],"and":[62,78,90,107,127,133,199,213,230,239,245,304,311,330,350],"BRCA2":[63,158,214,281,305,331],"mutations":[64,95,159,332],"are":[65,99],"model":[67,338],"this":[69,143],"paradigm.":[70],"Since":[71],"these":[72],"genes":[73,98],"were":[74],"identified":[75,258],"1994":[77],"1995,":[79],"much":[80],"work":[81,134],"been":[83,237,256],"done":[84],"establish":[86,138],"mutation-associated":[87],"risks":[89,114],"management":[92],"Deleterious":[94],"both":[97],"associated":[100],"with":[101,155,164,197,308,314],"high":[103],"breast":[106,126,162,168,198,310],"ovarian":[108,128,200,312],"cancer,":[109,313],"as":[110,112,145,147,220,336],"well":[111,146],"lower":[113],"other":[116],"tumor":[117],"types.":[118],"Risk-reducing":[119],"salpingo-oophorectomy":[120],"significantly":[121],"reduces":[122],"mutation":[131,195,306],"carriers":[132,196,307],"is":[135,175,259,264],"ongoing":[136],"optimal":[140],"timing":[141],"procedure":[144],"hormone":[151],"replacement":[152],"therapy.":[153,206],"Women":[154],"or":[157,280],"require":[160],"increased":[161],"screening":[163],"addition":[166],"MRI":[169],"at":[170],"minimum.":[172],"Prophylactic":[173],"mastectomy":[174],"valid":[177],"option.":[178],"More":[179],"recently":[180,257],"attention":[181],"turned":[183],"impact":[186,361],"biological":[189],"basis":[190],"disease":[192,345],"BRCA1/2":[194],"on":[202],"decisions":[203],"regarding":[204],"systemic":[205],"Due":[207],"role":[210],"proteins":[215],"cellular":[217],"functions":[218],"homologous":[221],"DNA":[222],"repair,":[223],"enhanced":[225],"sensitivity":[226,232],"platinum":[228],"agents":[229],"reduced":[231],"spindle":[234],"poisons":[235],"postulated":[238],"supported":[240],"by":[241],"vitro":[243],"studies":[244],"early":[246],"clinical":[247,294],"data.":[248],"An":[249],"additional":[250],"pathway":[251],"target":[253],"that":[254],"poly(ADP-ribose)":[260],"polymerase":[261],"(PARP).":[262],"PARP":[263,275,300],"key":[266],"enzyme":[267],"base-excision":[270],"repair":[271],"pathway.":[272],"In":[273],"vitro,":[274],"inhibitors":[276,301],"given":[277],"deficient":[282],"cell":[283,288],"lines":[284],"have":[285,296],"led":[286],"death":[289],"through":[290],"synthetic":[291],"lethality.":[292],"Early":[293],"trials":[295],"demonstrated":[297],"efficacy":[298],"advanced":[309],"objective":[315],"response":[316],"rates":[317],"heavily":[319],"pretreated":[320],"patients":[321],"greater":[323],"than":[324],"40%.":[325],"Genetic":[326],"testing":[327],"seen":[335],"translating":[340],"biology":[342],"into":[346],"assessment,":[348],"prevention":[349],"treatment,":[351],"thus":[352],"demonstrating":[353],"inherited":[357],"genetics":[358],"directly":[360],"Citation":[366],"Information:":[367],"Clin":[368],"Cancer":[369],"Res":[370],"2010;16(14":[371],"Suppl):IA3-3.":[372]},"counts_by_year":[],"updated_date":"2026-07-14T23:27:15.235271","created_date":"2025-10-10T00:00:00"}