{"id":"https://openalex.org/W4361948397","doi":"https://doi.org/10.1158/1055-9965.c.6516163.v1","title":"Data from Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients","display_name":"Data from Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients","publication_year":2023,"publication_date":"2023-03-31","ids":{"openalex":"https://openalex.org/W4361948397","doi":"https://doi.org/10.1158/1055-9965.c.6516163.v1"},"language":"en","primary_location":{"id":"doi:10.1158/1055-9965.c.6516163.v1","doi":"https://doi.org/10.1158/1055-9965.c.6516163.v1","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1055-9965.c.6516163.v1","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.6516163.v1","any_repository_has_fulltext":null},"authorships":[{"author_position":"first","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":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085507659","display_name":"Steven N. Hart","orcid":"https://orcid.org/0000-0001-7714-2734","observed_orcids":["https://orcid.org/0000-0001-7714-2734"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Steven N. Hart","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037364927","display_name":"William R. Bamlet","orcid":"https://orcid.org/0000-0003-2903-1284","observed_orcids":["https://orcid.org/0000-0003-2903-1284"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"William R. Bamlet","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004159840","display_name":"Raymond M. Moore","orcid":"https://orcid.org/0000-0003-4196-1804","observed_orcids":["https://orcid.org/0000-0003-4196-1804"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Raymond M. Moore","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103526766","display_name":"Kannabiran Nandakumar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kannabiran Nandakumar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085469751","display_name":"Bruce W. Eckloff","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bruce W. Eckloff","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065979372","display_name":"Yean Kee Lee","orcid":"https://orcid.org/0000-0002-6911-2073","observed_orcids":["https://orcid.org/0000-0002-6911-2073"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yean K. Lee","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048782070","display_name":"Gloria M. Petersen","orcid":"https://orcid.org/0000-0003-3424-7039","observed_orcids":["https://orcid.org/0000-0003-3424-7039"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gloria M. Petersen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006194799","display_name":"Robert R. McWilliams","orcid":"https://orcid.org/0000-0002-8199-5040","observed_orcids":["https://orcid.org/0000-0002-8199-5040"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Robert R. McWilliams","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","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":null,"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":0.6845999956130981,"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":0.6845999956130981,"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/T10231","display_name":"Pancreatic and Hepatic Oncology Research","score":0.2797999978065491,"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":0.031199999153614044,"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/pancreatic-ductal-adenocarcinoma","display_name":"pancreatic ductal adenocarcinoma","score":0.9649999737739563},{"id":"https://openalex.org/keywords/germline-pathogenic-variants","display_name":"germline pathogenic variants","score":0.9380000233650208},{"id":"https://openalex.org/keywords/cancer-susceptibility-genes","display_name":"cancer susceptibility genes","score":0.9929999709129333},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.6240000128746033},{"id":"https://openalex.org/keywords/atm","display_name":"ATM","score":0.9120000004768372},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":0.9549999833106995},{"id":"https://openalex.org/keywords/chek2","display_name":"CHEK2","score":0.9700000286102295},{"id":"https://openalex.org/keywords/msh6","display_name":"MSH6","score":0.9959999918937683},{"id":"https://openalex.org/keywords/bard1","display_name":"BARD1","score":0.7860000133514404},{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.9480000138282776},{"id":"https://openalex.org/keywords/fancm","display_name":"FANCM","score":0.9589999914169312},{"id":"https://openalex.org/keywords/niobium-nitride","display_name":"niobium nitride","score":0.9879999756813049},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.8159999847412109},{"id":"https://openalex.org/keywords/cancer-risk","display_name":"cancer risk","score":0.3059999942779541}],"concepts":[{"id":"https://openalex.org/C2780210213","wikidata":"https://www.wikidata.org/wiki/Q212961","display_name":"Pancreatic cancer","level":3,"score":0.6704578399658203},{"id":"https://openalex.org/C2776071976","wikidata":"https://www.wikidata.org/wiki/Q14912280","display_name":"CHEK2","level":5,"score":0.6407460570335388},{"id":"https://openalex.org/C2776674815","wikidata":"https://www.wikidata.org/wiki/Q14911717","display_name":"MSH6","level":5,"score":0.5550965666770935},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5297266840934753},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5105577707290649},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.49636536836624146},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4875907301902771},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4843679368495941},{"id":"https://openalex.org/C67636389","wikidata":"https://www.wikidata.org/wiki/Q784237","display_name":"Genetic predisposition","level":3,"score":0.456696093082428},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.4507567286491394},{"id":"https://openalex.org/C2781182431","wikidata":"https://www.wikidata.org/wiki/Q356033","display_name":"Adenocarcinoma","level":3,"score":0.4498542547225952},{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.4271838963031769},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.4102437198162079},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.37589550018310547},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3572026491165161},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.34514838457107544},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34470945596694946},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.30344730615615845},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28557467460632324},{"id":"https://openalex.org/C60748783","wikidata":"https://www.wikidata.org/wiki/Q2984243","display_name":"DNA mismatch repair","level":4,"score":0.1294979453086853},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.06603720784187317}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/1055-9965.c.6516163.v1","doi":"https://doi.org/10.1158/1055-9965.c.6516163.v1","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1055-9965.c.6516163.v1","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.6516163.v1","doi":"https://doi.org/10.1158/1055-9965.c.6516163.v1","is_oa":true,"landing_page_url":"https://doi.org/10.1158/1055-9965.c.6516163.v1","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.800000011920929}],"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/W1844119416","https://openalex.org/W4327967140","https://openalex.org/W2738571634","https://openalex.org/W2147918436","https://openalex.org/W2313929922","https://openalex.org/W2883600652","https://openalex.org/W4318476671","https://openalex.org/W2807346651","https://openalex.org/W3181968568","https://openalex.org/W7125426942"],"abstract_inverted_index":{"Abstract":[0],"The":[1],"prevalence":[2],"of":[3,11,29,34,46,146,165,173,178,191],"germline":[4,151,188],"pathogenic":[5,69],"mutations":[6,30,70,100,108,121,152],"in":[7,31,71,77,81,84,91,102,111,124,153],"a":[8,32,43,60,114,143,162],"comprehensive":[9],"panel":[10,33],"cancer":[12,36,47,105,167],"predisposition":[13,37,154],"genes":[14,155],"is":[15],"not":[16],"well-defined":[17],"for":[18,42,185],"patients":[19,40,73,112,125,147,192],"with":[20,113,117,126,131,148,157,175,193],"pancreatic":[21,104,166,194],"ductal":[22],"adenocarcinoma":[23],"(PDAC).":[24],"To":[25],"estimate":[26],"the":[27,52,183],"frequency":[28],"22":[35],"genes,":[38],"96":[39],"unselected":[41],"family":[44],"history":[45],"who":[48],"were":[49,63,75,109,122],"recruited":[50],"to":[51],"Mayo":[53],"Clinic":[54],"Pancreatic":[55],"Cancer":[56,196],"patient":[57],"registry":[58],"over":[59],"12-month":[61],"period":[62],"screened":[64],"by":[65],"next-generation":[66],"sequencing.":[67],"Fourteen":[68],"13":[72],"(13.5%)":[74],"identified":[76],"eight":[78],"genes:":[79],"four":[80],"ATM,":[82],"two":[83],"BRCA2,":[85],"CHEK2,":[86],"and":[87,89,95,119,160],"MSH6,":[88],"one":[90],"BARD1,":[92],"BRCA1,":[93],"FANCM,":[94],"NBN.":[96],"These":[97,139,180],"included":[98],"nine":[99],"(9.4%)":[101],"established":[103],"genes.":[106],"Three":[107],"found":[110,123],"first-degree":[115],"relative":[116],"PDAC,":[118],"10":[120],"first-":[127],"or":[128,136],"second-degree":[129],"relatives":[130],"breast,":[132],"pancreas,":[133],"colorectal,":[134],"ovarian,":[135],"endometrial":[137],"cancers.":[138],"results":[140],"suggest":[141],"that":[142,161],"substantial":[144],"proportion":[145],"PDAC":[149],"carry":[150],"associated":[156],"other":[158],"cancers":[159],"better":[163],"understanding":[164],"risk":[168],"will":[169],"depend":[170],"on":[171],"evaluation":[172],"families":[174],"broad":[176],"constellations":[177],"tumors.":[179],"findings":[181],"highlight":[182],"need":[184],"recommendations":[186],"governing":[187],"gene-panel":[189],"testing":[190],"cancer.":[195],"Epidemiol":[197],"Biomarkers":[198],"Prev;":[199],"25(1);":[200],"207\u201311.":[201],"\u00a92015":[202],"AACR.":[203]},"counts_by_year":[],"updated_date":"2026-08-21T09:56:20.448147","created_date":"2023-04-05T00:00:00"}
