{"id":"https://openalex.org/W2137279205","doi":null,"title":"Fanconi anemia is a highly penetrant cancer susceptibility syndrome.","display_name":"Fanconi anemia is a highly penetrant cancer susceptibility syndrome.","publication_year":2008,"publication_date":"2008-04-01","ids":{"openalex":"https://openalex.org/W2137279205","mag":"2137279205","pmid":"https://pubmed.ncbi.nlm.nih.gov/18379006"},"language":"en","primary_location":{"id":"pmid:18379006","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18379006","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":"Haematologica","raw_type":"Comment"},"volume":null,"type":"letter","is_traditional":true,"indexed_in":["doaj","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/A5080271377","display_name":"Inderjeet S Dokal","orcid":"https://orcid.org/0000-0003-4462-4782","observed_orcids":["https://orcid.org/0000-0003-4462-4782"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Inderjeet Dokal","raw_affiliation_strings":["Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, England. i.dokal@qmul.ac.uk"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Unit of Paediatrics, Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, London, England. i.dokal@qmul.ac.uk","institution_ids":["https://openalex.org/I166337079"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5080271377"],"corresponding_institution_ids":["https://openalex.org/I166337079"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"93","issue":"4","first_page":"486","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.7856000065803528,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T12919","display_name":"Blood disorders and treatments","score":0.7856000065803528,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10123","display_name":"DNA Repair Mechanisms","score":0.14710000157356262,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.007499999832361937,"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/fanconi-anemia","display_name":"Fanconi anemia","score":1.0},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.7770000100135803},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.7590000033378601},{"id":"https://openalex.org/keywords/bone-marrow-failure-syndromes","display_name":"bone marrow failure syndromes","score":0.7699999809265137},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.9909999966621399},{"id":"https://openalex.org/keywords/x-linked-recessive-inheritance","display_name":"X-linked recessive inheritance","score":0.8740000128746033},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.7720000147819519}],"concepts":[{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.9026244878768921},{"id":"https://openalex.org/C2780525284","wikidata":"https://www.wikidata.org/wiki/Q7882181","display_name":"Bone marrow failure","level":4,"score":0.6380733251571655},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.5729677677154541},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4834367036819458},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4810962378978729},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.45650774240493774},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.4388171434402466},{"id":"https://openalex.org/C114538912","wikidata":"https://www.wikidata.org/wiki/Q290507","display_name":"Savior sibling","level":4,"score":0.4340149760246277},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41392382979393005},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.321918249130249},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3216680586338043},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.24976110458374023},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.20933499932289124},{"id":"https://openalex.org/C109159458","wikidata":"https://www.wikidata.org/wiki/Q919283","display_name":"Haematopoiesis","level":3,"score":0.1665033996105194},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16205325722694397},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.10246628522872925},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.09383532404899597},{"id":"https://openalex.org/C28328180","wikidata":"https://www.wikidata.org/wiki/Q48196","display_name":"Stem cell","level":2,"score":0.09281983971595764},{"id":"https://openalex.org/C2777408962","wikidata":"https://www.wikidata.org/wiki/Q1128050","display_name":"Hematopoietic stem cell transplantation","level":3,"score":0.06553423404693604}],"mesh":[{"descriptor_ui":"D001855","descriptor_name":"Bone Marrow Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001855","descriptor_name":"Bone Marrow Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D004249","descriptor_name":"DNA Damage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004260","descriptor_name":"DNA Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D009386","descriptor_name":"Neoplastic Syndromes, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012042","descriptor_name":"Registries","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D012306","descriptor_name":"Risk","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015470","descriptor_name":"Leukemia, Myeloid, Acute","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015470","descriptor_name":"Leukemia, Myeloid, Acute","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D018380","descriptor_name":"Hematopoietic Stem Cell Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019457","descriptor_name":"Chromosome Breakage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019683","descriptor_name":"Penetrance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051856","descriptor_name":"Fanconi Anemia Complementation Group Proteins","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:18379006","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18379006","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":"Haematologica","raw_type":"Comment"},{"id":"pmh:oai:doaj.org/article:63c4ff6f6306459d845dc12ada8f40b2","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/63c4ff6f6306459d845dc12ada8f40b2","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Haematologica, Vol 93, Iss 4 (2008)","raw_type":"article"},{"id":"mag:2137279205","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18379006","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W16620579","https://openalex.org/W2002150942","https://openalex.org/W2005548022","https://openalex.org/W2008207745","https://openalex.org/W2010216792","https://openalex.org/W2016968143","https://openalex.org/W2024768217","https://openalex.org/W2031285678","https://openalex.org/W2053704077","https://openalex.org/W2069515061","https://openalex.org/W2081879617","https://openalex.org/W2097990135","https://openalex.org/W2101161126","https://openalex.org/W2114907977","https://openalex.org/W2128700722","https://openalex.org/W2159410169","https://openalex.org/W2168104423","https://openalex.org/W2577431534"],"related_works":["https://openalex.org/W7099187263","https://openalex.org/W7101187506","https://openalex.org/W172484002","https://openalex.org/W2085954784","https://openalex.org/W2183049955","https://openalex.org/W4245672648","https://openalex.org/W4241810694","https://openalex.org/W4402552528","https://openalex.org/W2193201693","https://openalex.org/W120731903"],"abstract_inverted_index":{"First":[0],"described":[1],"by":[2],"Guido":[3],"Fanconi":[4,7],"in":[5,32],"1927,":[6],"anemia":[8],"(FA)":[9],"is":[10,23],"now":[11],"one":[12],"of":[13,36],"the":[14],"best":[15],"defined":[16],"inherited":[17,25],"bone":[18],"marrow":[19],"failure":[20],"syndromes.":[21],"It":[22],"usually":[24],"as":[26],"an":[27,42],"autosomal":[28],"recessive":[29,44],"trait,":[30],"but":[31],"a":[33],"small":[34],"subset":[35],"FA":[37,46],"cases":[38],"it":[39],"can":[40],"be":[41],"X-linked":[43],"disorder.":[45],"patients":[47],"show":[48],"marked":[49],"clinical":[50]},"counts_by_year":[{"year":2017,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
