{"id":"https://openalex.org/W4392607053","doi":"https://doi.org/10.1016/j.gimo.2024.100965","title":"P083: Prevalence and penetrance of LZTR1 pathogenic variants: To screen or not to screen?","display_name":"P083: Prevalence and penetrance of LZTR1 pathogenic variants: To screen or not to screen?","publication_year":2024,"publication_date":"2024-01-01","ids":{"openalex":"https://openalex.org/W4392607053","doi":"https://doi.org/10.1016/j.gimo.2024.100965"},"language":"en","primary_location":{"id":"doi:10.1016/j.gimo.2024.100965","doi":"https://doi.org/10.1016/j.gimo.2024.100965","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2024.100965","pdf_url":"http://www.gimopen.org/article/S2949774424001110/pdf","source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"http://www.gimopen.org/article/S2949774424001110/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088458374","display_name":"Susan Shehayeb","orcid":"https://orcid.org/0000-0003-3839-7261","observed_orcids":["https://orcid.org/0000-0003-3839-7261"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Susan Shehayeb","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063914675","display_name":"Hunaydah Elfarawi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hunaydah Elfarawi","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080291337","display_name":"Kaila Wilson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kaila Wilson","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048807628","display_name":"Wai Park","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wai Park","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031864750","display_name":"Anuja Chitre","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anuja Chitre","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041409659","display_name":"Lawrence Shaktah","orcid":"https://orcid.org/0009-0003-0923-9712","observed_orcids":["https://orcid.org/0009-0003-0923-9712"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lawrence Shaktah","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002578603","display_name":"Duveen Sturgeon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Duveen Sturgeon","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103030094","display_name":"Kevin McDonnell","orcid":"https://orcid.org/0000-0002-3354-4747","observed_orcids":["https://orcid.org/0000-0002-3354-4747","https://orcid.org/0000-0002-4942-8943"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kevin McDonnell","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012798070","display_name":"Heather Hampel","orcid":"https://orcid.org/0000-0001-7558-9794","observed_orcids":["https://orcid.org/0000-0001-7558-9794"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heather Hampel","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104255082","display_name":"Alexandra Capasso","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alexandra Capasso","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010589923","display_name":"Stacy W. Gray","orcid":"https://orcid.org/0000-0001-6948-0143","observed_orcids":["https://orcid.org/0000-0001-6948-0143"]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stacy Gray","raw_affiliation_strings":["City of Hope National Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"City of Hope National Medical Center","institution_ids":["https://openalex.org/I1301076528"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1301076528"],"apc_list":{"value":3200,"currency":"USD","value_usd":3200},"apc_paid":{"value":3200,"currency":"USD","value_usd":3200},"fwci":null,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"2","issue":null,"first_page":"100965","last_page":"100965"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.986299991607666,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.986299991607666,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.006399999838322401,"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/T10769","display_name":"BRCA gene mutations in cancer","score":0.003000000026077032,"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/lztr1","display_name":"LZTR1","score":1.0},{"id":"https://openalex.org/keywords/germline-pathogenic-variants","display_name":"germline pathogenic variants","score":0.7459999918937683},{"id":"https://openalex.org/keywords/variant-prevalence","display_name":"variant prevalence","score":0.7450000047683716},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.9300000071525574},{"id":"https://openalex.org/keywords/noonan-syndrome","display_name":"Noonan syndrome","score":0.7870000004768372},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.7080000042915344},{"id":"https://openalex.org/keywords/schwannoma","display_name":"schwannoma","score":0.7670000195503235},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.492000013589859}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.9302445650100708},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43074333667755127},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.3775016665458679},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.3702358603477478},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3696579337120056},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36428534984588623},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09382739663124084},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.09067031741142273}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.gimo.2024.100965","doi":"https://doi.org/10.1016/j.gimo.2024.100965","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2024.100965","pdf_url":"http://www.gimopen.org/article/S2949774424001110/pdf","source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:745073121ad54ce8abe2c2595b2160a3","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/745073121ad54ce8abe2c2595b2160a3","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genetics in Medicine Open, Vol 2, Iss , Pp 100965- (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.gimo.2024.100965","doi":"https://doi.org/10.1016/j.gimo.2024.100965","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.gimo.2024.100965","pdf_url":"http://www.gimopen.org/article/S2949774424001110/pdf","source":{"id":"https://openalex.org/S4387287141","display_name":"Genetics in Medicine Open","issn_l":"2949-7744","issn":["2949-7744"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics in Medicine Open","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4392607053.pdf","grobid_xml":"https://content.openalex.org/works/W4392607053.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7162566365","https://openalex.org/W2026012659","https://openalex.org/W4224003421","https://openalex.org/W4285492964","https://openalex.org/W7221445698","https://openalex.org/W4401477238","https://openalex.org/W1980018228","https://openalex.org/W1987311809","https://openalex.org/W7065727424","https://openalex.org/W4401641663"],"abstract_inverted_index":{"LZTR1":[0,21,70,83],"is":[1,74],"a":[2,32,69],"tumor":[3,40],"suppressor":[4],"gene":[5],"in":[6,41],"which":[7],"germline":[8],"loss":[9],"of":[10,66],"function":[11],"variants":[12,52],"are":[13],"associated":[14,56],"with":[15,19,46,57,68],"hereditary":[16],"schwannomatosis.":[17,48],"Individuals":[18],"an":[20,76],"heterozygous":[22,50,71],"pathogenic":[23,26],"or":[24,36],"likely":[25],"(P/LP)":[27],"variant":[28,73],"must":[29],"also":[30,54],"have":[31,53],"pathologically":[33],"confirmed":[34],"schwannoma":[35],"hybrid":[37],"nerve":[38],"sheath":[39],"order":[42],"to":[43],"be":[44],"diagnosed":[45],"LZTR1-associated":[47],"Certain":[49],"P/LP":[51,72],"been":[55,80,87],"Noonan":[58],"syndrome.":[59],"To":[60],"date,":[61],"the":[62],"prevalence":[63],"and":[64],"management":[65],"individuals":[67],"not":[75,85],"area":[77],"that":[78],"has":[79,84],"well-studied":[81],"as":[82],"historically":[86],"included":[88],"on":[89],"most":[90],"multigene":[91],"cancer":[92],"panels.":[93]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2024-03-09T00:00:00"}