{"id":"https://openalex.org/W4385698266","doi":"https://doi.org/10.1158/1055-9965.c.6781965","title":"Data from Germline Mutations in 12 Genes and Risk of Ovarian Cancer in Three Population-Based Cohorts","display_name":"Data from Germline Mutations in 12 Genes and Risk of Ovarian Cancer in Three Population-Based Cohorts","publication_year":2023,"publication_date":"2023-08-09","ids":{"openalex":"https://openalex.org/W4385698266","doi":"https://doi.org/10.1158/1055-9965.c.6781965"},"language":"en","primary_location":{"id":"doi:10.1158/1055-9965.c.6781965","doi":"https://doi.org/10.1158/1055-9965.c.6781965","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1055-9965.c.6781965","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Association for Cancer Research","raw_type":"posted-content"},"volume":null,"type":"other","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1158/1055-9965.c.6781965","any_repository_has_fulltext":null},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087749880","display_name":"Joanne Kotsopoulos","orcid":"https://orcid.org/0000-0001-9624-4218","observed_orcids":["https://orcid.org/0000-0001-9624-4218"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Joanne Kotsopoulos","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9624-4218","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067426136","display_name":"Cassandra A. Hathaway","orcid":"https://orcid.org/0000-0002-2919-0499","observed_orcids":["https://orcid.org/0000-0002-2919-0499"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Cassandra A. Hathaway","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-2919-0499","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088516335","display_name":"Steven Alexander Narod","orcid":"https://orcid.org/0000-0001-5798-0626","observed_orcids":["https://orcid.org/0000-0001-5798-0626"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Steven A. Narod","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-5798-0626","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029577209","display_name":"Lauren R. Teras","orcid":"https://orcid.org/0000-0003-2419-8536","observed_orcids":["https://orcid.org/0000-0003-2419-8536"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lauren R. Teras","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2419-8536","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015244902","display_name":"Alpa V. Patel","orcid":"https://orcid.org/0000-0001-9997-1218","observed_orcids":["https://orcid.org/0000-0001-9997-1218"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alpa V. Patel","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9997-1218","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003869193","display_name":"Chunling Hu","orcid":"https://orcid.org/0000-0002-6814-4639","observed_orcids":["https://orcid.org/0000-0002-6814-4639"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chunling Hu","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-6814-4639","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078812195","display_name":"Siddhartha Yadav","orcid":"https://orcid.org/0000-0003-4630-9903","observed_orcids":["https://orcid.org/0000-0003-4630-9903"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Siddhartha Yadav","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-4630-9903","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016908886","display_name":"Fergus J. Couch","orcid":"https://orcid.org/0000-0001-9417-9985","observed_orcids":["https://orcid.org/0000-0001-9417-9985"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fergus J. Couch","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9417-9985","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5054091966","display_name":"Shelley S. Tworoger","orcid":"https://orcid.org/0000-0002-6986-7046","observed_orcids":["https://orcid.org/0000-0002-6986-7046"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shelley S. Tworoger","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-6986-7046","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"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":null,"issue":null,"first_page":null,"last_page":null},"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/T10550","display_name":"Ovarian cancer diagnosis and treatment","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive 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/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/germline-mutations","display_name":"germline mutations","score":0.9440000057220459},{"id":"https://openalex.org/keywords/ovarian-cancer","display_name":"ovarian cancer","score":0.7680000066757202},{"id":"https://openalex.org/keywords/cancer-susceptibility-genes","display_name":"cancer susceptibility genes","score":0.7739999890327454},{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.9769999980926514},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":1.0},{"id":"https://openalex.org/keywords/palb2","display_name":"PALB2","score":1.0},{"id":"https://openalex.org/keywords/epithelial-ovarian-cancer","display_name":"epithelial ovarian cancer","score":0.7400000095367432},{"id":"https://openalex.org/keywords/peritoneal-cancer","display_name":"peritoneal cancer","score":0.9789999723434448},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.671999990940094},{"id":"https://openalex.org/keywords/germline-testing","display_name":"germline genetic testing","score":0.8610000014305115},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.7229999899864197},{"id":"https://openalex.org/keywords/cancer-survival","display_name":"cancer survival","score":0.3449999988079071}],"concepts":[{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.7937150001525879},{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.6336321234703064},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5699758529663086},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.538385272026062},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5191535353660583},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4342377781867981},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4303409159183502},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.42175182700157166},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.38235044479370117},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.3470850884914398},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31600308418273926},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.09866994619369507}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1055-9965.c.6781965","doi":"https://doi.org/10.1158/1055-9965.c.6781965","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1055-9965.c.6781965","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Association for Cancer Research","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.1158/1055-9965.c.6781965","doi":"https://doi.org/10.1158/1055-9965.c.6781965","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1055-9965.c.6781965","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"American Association for Cancer Research","raw_type":"posted-content"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/3","score":0.7599999904632568,"display_name":"Good health and well-being"}],"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/W4385263661","https://openalex.org/W3129336920","https://openalex.org/W2739552945","https://openalex.org/W2025460005","https://openalex.org/W2002419036","https://openalex.org/W4281621060","https://openalex.org/W2513556623","https://openalex.org/W1991289129","https://openalex.org/W2070953479","https://openalex.org/W2263569243"],"abstract_inverted_index":{"AbstractBackground:":[0],"With":[1],"the":[2,23,83,86,147,192,236],"widespread":[3],"use":[4],"of":[5,25,85,154,160,238],"multigene":[6],"panel":[7],"genetic":[8,254],"testing,":[9],"population-based":[10,45],"studies":[11,47],"are":[12],"necessary":[13],"to":[14,107,233],"accurately":[15],"assess":[16],"penetrance":[17],"in":[18,33,43,99,134,138,216,241],"unselected":[19,245],"individuals.":[20],"We":[21,58],"evaluated":[22],"prevalence":[24],"germline":[26,223,253],"pathogenic":[27,30],"or":[28,64],"likely":[29],"variants":[31],"(mutations)":[32],"12":[34,100,130],"cancer-predisposition":[35],"genes":[36,131,194],"and":[37,70,75,112,136,144,152,156,158,163,197,258],"associations":[38],"with":[39,61,166,203,220,263],"ovarian":[40,63,118,168,242,265],"cancer":[41,66,119,169,243],"risk":[42,120,170,204],"three":[44],"prospective":[46],"[Nurses\u2019":[48],"Health":[49],"Study":[50,55],"(NHS),":[51],"NHSII,":[52],"Cancer":[53],"Prevention":[54],"II].":[56],"Methods:":[57],"included":[59],"women":[60,219,261],"epithelial":[62,264],"peritoneal":[65],"(n":[67,90],"=":[68,91,173,179,183,187,206,210],"776)":[69],"controls":[71,139],"who":[72],"were":[73,146,164,195],"alive":[74],"had":[76],"at":[77,82],"least":[78],"one":[79],"intact":[80],"ovary":[81],"time":[84],"matched":[87],"case":[88],"diagnosis":[89],"1,509).":[92],"Germline":[93],"DNA":[94],"was":[95,105,132,200,213],"sequenced":[96],"for":[97,117,191,218,252,256,268],"mutations":[98,240],"genes.":[101],"Conditional":[102],"logistic":[103],"regression":[104],"used":[106],"estimate":[108],"odds":[109],"ratios":[110],"(OR)":[111],"95%":[113,175,185,208],"confidence":[114,176],"intervals":[115],"(CI)":[116,178],"by":[121],"mutation":[122,126,224],"status.":[123],"Results:":[124],"The":[125],"frequency":[127],"across":[128],"all":[129],"11.2%":[133],"cases":[135,155],"3.3%":[137],"(P":[140],"<":[141],"0.0001).":[142],"BRCA1":[143,172,257],"BRCA2":[145,182,259],"most":[148],"frequently":[149],"mutated":[150],"(3.5%":[151],"3.8%":[153],"0.3%":[157],"0.5%":[159],"controls,":[161],"respectively)":[162],"associated":[165,202],"increased":[167],"[OR,":[171],"12.38;":[174],"interval":[177],"4.72\u201332.45;":[180],"OR,":[181],"9.18;":[184],"CI":[186,209],"3.98\u201321.15].":[188],"Mutation":[189],"frequencies":[190],"other":[193,239],"\u22641.0%":[196],"only":[198],"PALB2":[199,269],"significantly":[201],"(OR":[205],"5.79;":[207],"1.09\u201330.83).":[211],"There":[212],"no":[214,226],"difference":[215],"survival":[217],"a":[221],"BRCA":[222],"versus":[225],"mutation.":[227],"Conclusions:":[228],"Further":[229],"research":[230],"is":[231],"needed":[232],"better":[234],"understand":[235],"role":[237],"among":[244,260],"populations.":[246],"Impact:":[247],"Our":[248],"data":[249],"support":[250],"guidelines":[251],"testing":[255,267],"diagnosed":[262],"cancer;":[266],"may":[270],"be":[271],"warranted.":[272]},"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2023-08-10T00:00:00"}