{"id":"https://openalex.org/W4392724596","doi":"https://doi.org/10.1158/0008-5472.c.6501023.v1","title":"Data from Estimating CDKN2A Carrier Probability and Personalizing Cancer Risk Assessments in Hereditary Melanoma Using MelaPRO","display_name":"Data from Estimating CDKN2A Carrier Probability and Personalizing Cancer Risk Assessments in Hereditary Melanoma Using MelaPRO","publication_year":2023,"publication_date":"2023-03-30","ids":{"openalex":"https://openalex.org/W4392724596","doi":"https://doi.org/10.1158/0008-5472.c.6501023.v1"},"language":"en","primary_location":{"id":"doi:10.1158/0008-5472.c.6501023.v1","doi":"https://doi.org/10.1158/0008-5472.c.6501023.v1","is_oa":true,"landing_page_url":"https://doi.org/10.1158/0008-5472.c.6501023.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/10.1158/0008-5472.c.6501023.v1","any_repository_has_fulltext":null},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100354894","display_name":"Wenyi Wang","orcid":"https://orcid.org/0000-0003-0617-9438","observed_orcids":["https://orcid.org/0000-0003-0617-9438"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wenyi Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082428548","display_name":"Kristin Baker Niendorf","orcid":"https://orcid.org/0000-0001-6455-9944","observed_orcids":["https://orcid.org/0000-0001-6455-9944"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kristin B. Niendorf","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Devanshi Patel","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Devanshi Patel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012591920","display_name":"Amanda L. Blackford","orcid":"https://orcid.org/0000-0002-6519-4833","observed_orcids":["https://orcid.org/0000-0002-6519-4833"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Amanda Blackford","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043180144","display_name":"Fabio Marroni","orcid":"https://orcid.org/0000-0002-1556-5907","observed_orcids":["https://orcid.org/0000-0002-1556-5907"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fabio Marroni","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106134981","display_name":"Arthur J. Sober","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Arthur J. Sober","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050977500","display_name":"Giovanni Parmigiani","orcid":"https://orcid.org/0000-0002-8783-5961","observed_orcids":["https://orcid.org/0000-0002-8783-5961"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Giovanni Parmigiani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5017303827","display_name":"Hensin Tsao","orcid":"https://orcid.org/0000-0002-2204-2071","observed_orcids":["https://orcid.org/0000-0002-2204-2071"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hensin Tsao","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/T10392","display_name":"Cutaneous Melanoma Detection and Management","score":0.7275000214576721,"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"}},"topics":[{"id":"https://openalex.org/T10392","display_name":"Cutaneous Melanoma Detection and Management","score":0.7275000214576721,"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/T10769","display_name":"BRCA gene mutations in cancer","score":0.21389999985694885,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.02850000001490116,"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/hereditary-melanoma","display_name":"hereditary melanoma","score":0.953000009059906},{"id":"https://openalex.org/keywords/cdkn2a-mutation","display_name":"CDKN2A mutation","score":0.9049999713897705},{"id":"https://openalex.org/keywords/melanoma-risk-prediction","display_name":"melanoma risk prediction","score":0.8339999914169312},{"id":"https://openalex.org/keywords/melanoma-prone-families","display_name":"melanoma-prone families","score":0.8389999866485596}],"concepts":[{"id":"https://openalex.org/C2780265364","wikidata":"https://www.wikidata.org/wiki/Q5009957","display_name":"CDKN2A","level":3,"score":0.8366130590438843},{"id":"https://openalex.org/C2777658100","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Melanoma","level":2,"score":0.63607257604599},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.6011847853660583},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4724878668785095},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.45509573817253113},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4162839651107788},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.39745163917541504}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1158/0008-5472.c.6501023.v1","doi":"https://doi.org/10.1158/0008-5472.c.6501023.v1","is_oa":true,"landing_page_url":"https://doi.org/10.1158/0008-5472.c.6501023.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:10.1158/0008-5472.c.6501023.v1","doi":"https://doi.org/10.1158/0008-5472.c.6501023.v1","is_oa":true,"landing_page_url":"https://doi.org/10.1158/0008-5472.c.6501023.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":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"id":"https://metadata.un.org/sdg/16","score":0.4399999976158142,"display_name":"Peace, justice, and strong institutions"}],"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/W2144714748","https://openalex.org/W7101222944","https://openalex.org/W1992539804","https://openalex.org/W2913036100","https://openalex.org/W3090977444","https://openalex.org/W2131906164","https://openalex.org/W2801976542","https://openalex.org/W2172049434","https://openalex.org/W7099238333","https://openalex.org/W4388334544"],"abstract_inverted_index":{"Abstract":[0],"Personalized":[1],"cancer":[2,11],"risk":[3,29,56,160],"assessment":[4],"remains":[5,34],"an":[6,46,80],"essential":[7],"imperative":[8],"in":[9,23],"postgenomic":[10],"medicine.":[12],"In":[13,79,127],"hereditary":[14,32,166],"melanoma,":[15],"germline":[16,50],"CDKN2A":[17,51],"mutations":[18],"have":[19],"been":[20],"reproducibly":[21],"identified":[22],"melanoma-prone":[24,60],"kindreds":[25],"worldwide.":[26],"However,":[27],"genetic":[28,66],"counseling":[30,161],"for":[31,162],"melanoma":[33,55,167],"clinically":[35,152],"challenging.":[36],"To":[37],"address":[38],"this":[39],"challenge,":[40],"we":[41],"developed":[42],"and":[43,54,68,76,106,115],"validated":[44],"MelaPRO,":[45],"algorithm":[47],"that":[48,155],"provides":[49],"mutation":[52],"probabilities":[53],"to":[57,72],"individuals":[58,85],"from":[59,86],"families.":[61,168],"MelaPRO":[62,89,129,149],"builds":[63],"on":[64],"comprehensive":[65],"information,":[67],"uses":[69],"Mendelian":[70],"modeling":[71],"provide":[73,158],"fine":[74],"resolution":[75],"high":[77],"accuracy.":[78],"independent":[81],"validation":[82],"of":[83,98,144,165],"195":[84],"167":[87],"families,":[88],"exhibited":[90],"good":[91,107],"discrimination":[92],"with":[93,109,124,141],"a":[94,142,151],"concordance":[95],"index":[96],"(C)":[97],"0.86":[99],"[95%":[100],"confidence":[101],"intervals":[102],"(95%":[103,146],"CI),":[104],"0.75\u20130.97]":[105],"calibration,":[108],"no":[110],"significant":[111],"difference":[112,143],"between":[113],"observed":[114],"predicted":[116],"carriers":[117],"(26;":[118],"95%":[119,138],"CI,":[120,139,147],"20\u201335,":[121],"as":[122],"compared":[123],"22":[125],"observed).":[126],"cross-validation,":[128],"outperformed":[130],"the":[131],"existing":[132],"predictive":[133],"model":[134],"MELPREDICT":[135],"(C,":[136],"0.82;":[137],"0.61\u20130.93),":[140],"0.05":[145],"0.007\u20130.17).":[148],"is":[150],"accessible":[153],"tool":[154],"can":[156],"effectively":[157],"personalized":[159],"all":[163],"members":[164],"Cancer":[169],"Res;":[170],"70(2);":[171],"552\u20139":[172]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2024-03-13T00:00:00"}
