{"id":"https://openalex.org/W2332437254","doi":"https://doi.org/10.1093/jnci/89.10.676","title":"Screening for CDKN2A Mutations in Hereditary Melanoma","display_name":"Screening for CDKN2A Mutations in Hereditary Melanoma","publication_year":1997,"publication_date":"1997-05-21","ids":{"openalex":"https://openalex.org/W2332437254","doi":"https://doi.org/10.1093/jnci/89.10.676","mag":"2332437254","pmid":"https://pubmed.ncbi.nlm.nih.gov/9168176"},"language":"en","primary_location":{"id":"doi:10.1093/jnci/89.10.676","doi":"https://doi.org/10.1093/jnci/89.10.676","is_oa":false,"landing_page_url":"https://doi.org/10.1093/jnci/89.10.676","pdf_url":null,"source":{"id":"https://openalex.org/S98010888","display_name":"JNCI Journal of the National Cancer Institute","issn_l":"0027-8874","issn":["0027-8874","1460-2105"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JNCI Journal of the National Cancer Institute","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"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/A5063007431","display_name":"Alisa M. Goldstein","orcid":"https://orcid.org/0000-0002-7538-3582","observed_orcids":["https://orcid.org/0000-0002-7538-3582"]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]},{"id":"https://openalex.org/I4391012607","display_name":"Division of Cancer Epidemiology and Genetics","ror":"https://ror.org/00vkwep27","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4391012607"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"A. M. Goldstein","raw_affiliation_strings":["Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD","institution_ids":["https://openalex.org/I4210140884","https://openalex.org/I4391012607"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108594343","display_name":"Margaret A. Tucker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210140884","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884"]},{"id":"https://openalex.org/I4391012607","display_name":"Division of Cancer Epidemiology and Genetics","ror":"https://ror.org/00vkwep27","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210140884","https://openalex.org/I4391012607"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. A. Tucker","raw_affiliation_strings":["Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD","institution_ids":["https://openalex.org/I4210140884","https://openalex.org/I4391012607"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5063007431"],"corresponding_institution_ids":["https://openalex.org/I4210140884","https://openalex.org/I4391012607"],"apc_list":{"value":5436,"currency":"USD","value_usd":5436},"apc_paid":null,"fwci":0.3953,"has_fulltext":true,"cited_by_count":53,"citation_normalized_percentile":{"value":0.57464789,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"89","issue":"10","first_page":"676","last_page":"678"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10392","display_name":"Cutaneous Melanoma Detection and Management","score":0.9380000233650208,"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":0.9380000233650208,"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":0.019600000232458115,"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"}},{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.01119999960064888,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/cdkn2a-mutation","display_name":"CDKN2A mutation","score":0.9010000228881836},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.828000009059906},{"id":"https://openalex.org/keywords/hereditary-melanoma","display_name":"hereditary melanoma","score":0.9430000185966492},{"id":"https://openalex.org/keywords/cutaneous-melanoma","display_name":"cutaneous melanoma","score":0.9399999976158142},{"id":"https://openalex.org/keywords/p16ink4a","display_name":"p16INK4a","score":0.8259999752044678},{"id":"https://openalex.org/keywords/melanoma-prone-families","display_name":"melanoma-prone families","score":0.7910000085830688},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.6259999871253967},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.6470000147819519},{"id":"https://openalex.org/keywords/familial-melanoma","display_name":"familial melanoma","score":0.4429999887943268},{"id":"https://openalex.org/keywords/dysplastic-nevi","display_name":"dysplastic nevi","score":0.6100000143051147},{"id":"https://openalex.org/keywords/chromosome-9p21","display_name":"chromosome 9p21","score":0.734000027179718},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.4339999854564667}],"concepts":[{"id":"https://openalex.org/C2780265364","wikidata":"https://www.wikidata.org/wiki/Q5009957","display_name":"CDKN2A","level":3,"score":0.6499993801116943},{"id":"https://openalex.org/C2777658100","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Melanoma","level":2,"score":0.5851675868034363},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5264744758605957},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5143393278121948},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.45591768622398376},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3335292935371399},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3276456296443939},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.3225049376487732},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.24369129538536072},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.15069633722305298}],"mesh":[{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004791","descriptor_name":"Enzyme Inhibitors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008403","descriptor_name":"Mass Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008545","descriptor_name":"Melanoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018844","descriptor_name":"Cyclin-Dependent Kinases","qualifier_ui":"Q000037","qualifier_name":"antagonists & inhibitors","is_major_topic":false},{"descriptor_ui":"D019941","descriptor_name":"Cyclin-Dependent Kinase Inhibitor p16","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051358","descriptor_name":"Cyclin-Dependent Kinase 4","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/jnci/89.10.676","doi":"https://doi.org/10.1093/jnci/89.10.676","is_oa":false,"landing_page_url":"https://doi.org/10.1093/jnci/89.10.676","pdf_url":null,"source":{"id":"https://openalex.org/S98010888","display_name":"JNCI Journal of the National Cancer Institute","issn_l":"0027-8874","issn":["0027-8874","1460-2105"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JNCI Journal of the National Cancer Institute","raw_type":"journal-article"},{"id":"pmid:9168176","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9168176","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the National Cancer Institute","raw_type":"Comment"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"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":31,"referenced_works":["https://openalex.org/W130949177","https://openalex.org/W135677969","https://openalex.org/W1491003408","https://openalex.org/W1590316048","https://openalex.org/W1869177431","https://openalex.org/W1971512164","https://openalex.org/W1973277018","https://openalex.org/W1977706798","https://openalex.org/W1983348452","https://openalex.org/W1997073961","https://openalex.org/W2032918048","https://openalex.org/W2038612568","https://openalex.org/W2051506850","https://openalex.org/W2066848701","https://openalex.org/W2082813530","https://openalex.org/W2086773265","https://openalex.org/W2088831705","https://openalex.org/W2098101378","https://openalex.org/W2101160627","https://openalex.org/W2123444949","https://openalex.org/W2141829510","https://openalex.org/W2142815709","https://openalex.org/W2158350288","https://openalex.org/W2158839248","https://openalex.org/W2167686879","https://openalex.org/W2320139078","https://openalex.org/W2399939370","https://openalex.org/W2404320834","https://openalex.org/W4235019056","https://openalex.org/W4247623075","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W7101224527","https://openalex.org/W2133282020","https://openalex.org/W7099447471","https://openalex.org/W2079122997","https://openalex.org/W1995973428","https://openalex.org/W2062724187","https://openalex.org/W199565055","https://openalex.org/W1979915037","https://openalex.org/W2032698020","https://openalex.org/W1564298331"],"abstract_inverted_index":{"Cutaneous":[0],"malignant":[1],"melanoma":[2,103,122,153],"(CMM)":[3],"is":[4,14],"a":[5,29,45,96],"potentially":[6],"fatal":[7],"form":[8],"of":[9,20,23,55,129,151,161,175],"skin":[10],"cancer":[11],"whose":[12],"etiology":[13],"heterogeneous":[15],"and":[16,107,193],"complex.":[17],"Approximately":[18],"10%":[19],"the":[21,53,56,71,75,80,141],"cases":[22],"CMM":[24],"occur":[25],"in":[26,34,102,113,120,132,147,171],"persons":[27],"with":[28,36,186],"familial":[30],"predisposition":[31],"(1),":[32],"often":[33],"association":[35],"clinically":[37],"dysplastic":[38],"or":[39,61,64,182],"atypical":[40],"nevi":[41],"(2).":[42],"In":[43],"1993,":[44],"low-molecular-weight":[46],"protein":[47,143],"p16INK4A":[48,89,142],"was":[49,90],"shown":[50],"to":[51,77,92],"inhibit":[52],"activity":[54],"cyclin":[57],"D1-cyclin-dependent":[58],"kinase":[59],"4":[60],"6":[62],"(CDK4":[63],"CDK6)":[65],"complex":[66,69],"(3).":[67],"This":[68],"phosphorylates":[70],"retinoblastoma":[72],"protein,":[73],"allowing":[74],"cell":[76,123],"pass":[78],"through":[79],"G1":[81],"cell-cycle":[82],"checkpoint.":[83],"The":[84],"CDKN2A":[85,166],"gene":[86,115],"that":[87,98,140],"encodes":[88],"localized":[91],"chromosome":[93],"9p21":[94],"(4,5),":[95],"region":[97],"has":[99],"been":[100,118,169],"implicated":[101],"by":[104],"linkage,":[105],"cytogenetic,":[106],"loss-of-heterozygosity":[108],"studies":[109,156],"(6\u201311).":[110],"Somatic":[111],"mutations":[112,131,167],"this":[114],"have":[116,157,168],"frequently":[117],"detected":[119,170],"many":[121],"lines":[124],"(4,5).":[125],"Although":[126],"initial":[127],"reports":[128],"germline":[130,165],"melanomaprone":[133],"families":[134],"(selected":[135],"for":[136],"genetic":[137],"analyses)":[138],"suggested":[139],"might":[144],"be":[145],"important":[146],"approximately":[148,172],"one":[149,173],"half":[150],"inherited":[152],"(12\u201314),":[154],"subsequent":[155],"revealed":[158],"lower":[159],"frequencies":[160],"mutations.":[162],"To":[163],"date,":[164],"fourth":[174],"melanoma-prone":[176],"kindreds":[177],"(defined":[178],"as":[179],"having":[180],"two":[181],"more":[183],"first-degree":[184],"relatives":[185],"confirmed":[187],"CMM)":[188],"from":[189],"North":[190],"America,":[191],"Europe,":[192],"Australia":[194],"(12\u201321).":[195]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
