{"id":"https://openalex.org/W1978294902","doi":"https://doi.org/10.1097/aog.0000000000000702","title":"Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer","display_name":"Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer","publication_year":2015,"publication_date":"2015-04-29","ids":{"openalex":"https://openalex.org/W1978294902","doi":"https://doi.org/10.1097/aog.0000000000000702","mag":"1978294902","pmid":"https://pubmed.ncbi.nlm.nih.gov/25923021"},"language":"en","primary_location":{"id":"doi:10.1097/aog.0000000000000702","doi":"https://doi.org/10.1097/aog.0000000000000702","is_oa":false,"landing_page_url":"https://doi.org/10.1097/aog.0000000000000702","pdf_url":null,"source":{"id":"https://openalex.org/S139838620","display_name":"Obstetrics and Gynecology","issn_l":"0029-7844","issn":["0029-7844","1873-233X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Obstetrics & Gynecology","raw_type":"journal-article"},"volume":null,"type":"article","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/A5026234778","display_name":"Merry Lynn Mann","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Merry Lynn Mann","raw_affiliation_strings":["Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113511041","display_name":"Mohammad Ezzati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mohammad Ezzati","raw_affiliation_strings":["Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078529724","display_name":"Edward D. Tarnawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edward D. Tarnawa","raw_affiliation_strings":["Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas","institution_ids":["https://openalex.org/I867280407"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103407886","display_name":"Bruce Richard Carr","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I867280407","display_name":"The University of Texas Southwestern Medical Center","ror":"https://ror.org/05byvp690","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I867280407"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bruce R. Carr","raw_affiliation_strings":["Corresponding author: Bruce R. Carr, MD, 5323 Harry Hines Boulevard, Dallas, TX 75390-9032; e-mail: [email\u00a0protected]","Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas","e-mail: [email\u00a0protected]"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Corresponding author: Bruce R. Carr, MD, 5323 Harry Hines Boulevard, Dallas, TX 75390-9032; e-mail: [email\u00a0protected]","institution_ids":[]},{"raw_affiliation_string":"Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, Texas","institution_ids":["https://openalex.org/I867280407"]},{"raw_affiliation_string":"e-mail: [email\u00a0protected]","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I867280407"],"apc_list":null,"apc_paid":null,"fwci":1.0538,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.78413183,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"126","issue":"1","first_page":"90","last_page":"92"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10989","display_name":"Uterine Myomas and Treatments","score":0.763700008392334,"subfield":{"id":"https://openalex.org/subfields/2729","display_name":"Obstetrics and Gynecology"},"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/T10989","display_name":"Uterine Myomas and Treatments","score":0.763700008392334,"subfield":{"id":"https://openalex.org/subfields/2729","display_name":"Obstetrics and Gynecology"},"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/T12049","display_name":"Tuberous Sclerosis Complex Research","score":0.05350000038743019,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/uterine-fibroids","display_name":"uterine fibroids","score":0.8830000162124634},{"id":"https://openalex.org/keywords/hereditary-leiomyomatosis","display_name":"hereditary leiomyomatosis","score":0.7749999761581421},{"id":"https://openalex.org/keywords/renal-cell-carcinoma","display_name":"renal cell carcinoma","score":0.824999988079071},{"id":"https://openalex.org/keywords/hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome","display_name":"hereditary leiomyomatosis and renal cell carcinoma syndrome","score":0.8009999990463257},{"id":"https://openalex.org/keywords/cancer-surveillance","display_name":"cancer surveillance","score":0.6430000066757202},{"id":"https://openalex.org/keywords/menorrhagia","display_name":"menorrhagia","score":0.8500000238418579},{"id":"https://openalex.org/keywords/myomectomy","display_name":"myomectomy","score":0.6389999985694885},{"id":"https://openalex.org/keywords/family-history-medicine","display_name":"family history (medicine)","score":0.6259999871253967}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9487820863723755},{"id":"https://openalex.org/C106302636","wikidata":"https://www.wikidata.org/wiki/Q21107515","display_name":"Fumarase","level":3,"score":0.8276380300521851},{"id":"https://openalex.org/C2910498315","wikidata":"https://www.wikidata.org/wiki/Q4667534","display_name":"Leiomyomatosis","level":3,"score":0.6585191488265991},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5228496193885803},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4976198971271515},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.49019962549209595},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.4769917130470276},{"id":"https://openalex.org/C3017725331","wikidata":"https://www.wikidata.org/wiki/Q556281","display_name":"Uterine leiomyoma","level":3,"score":0.44594302773475647},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.3724265396595001},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.33041149377822876},{"id":"https://openalex.org/C2779066055","wikidata":"https://www.wikidata.org/wiki/Q9612","display_name":"Uterus","level":2,"score":0.3227546215057373},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.30251985788345337},{"id":"https://openalex.org/C2777795800","wikidata":"https://www.wikidata.org/wiki/Q4667534","display_name":"Leiomyoma","level":2,"score":0.28669142723083496},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14414742588996887},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1300775408744812},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D002292","descriptor_name":"Carcinoma, Renal Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005649","descriptor_name":"Fumarate Hydratase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007680","descriptor_name":"Kidney Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014594","descriptor_name":"Uterine Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014594","descriptor_name":"Uterine Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018231","descriptor_name":"Leiomyomatosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018231","descriptor_name":"Leiomyomatosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1097/aog.0000000000000702","doi":"https://doi.org/10.1097/aog.0000000000000702","is_oa":false,"landing_page_url":"https://doi.org/10.1097/aog.0000000000000702","pdf_url":null,"source":{"id":"https://openalex.org/S139838620","display_name":"Obstetrics and Gynecology","issn_l":"0029-7844","issn":["0029-7844","1873-233X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Obstetrics & Gynecology","raw_type":"journal-article"},{"id":"pmid:25923021","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25923021","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":"Obstetrics and gynecology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9789000153541565,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":8,"referenced_works":["https://openalex.org/W1967291345","https://openalex.org/W1973564945","https://openalex.org/W1994414101","https://openalex.org/W2063439260","https://openalex.org/W2068892354","https://openalex.org/W2073365327","https://openalex.org/W2143929280","https://openalex.org/W2602082991"],"related_works":["https://openalex.org/W2734743472","https://openalex.org/W2106936570","https://openalex.org/W2132407321","https://openalex.org/W3008697080","https://openalex.org/W1973564945","https://openalex.org/W2125884195","https://openalex.org/W1998596376","https://openalex.org/W2068892354","https://openalex.org/W2883361097","https://openalex.org/W2466961593"],"abstract_inverted_index":{"BACKGROUND:":[0],"Heterozygous":[1],"gene":[2,109],"mutations":[3,79,110],"in":[4,9,28,114],"fumarate":[5,77],"hydratase":[6,78,108],"can":[7],"result":[8,88],"a":[10,66,84,87,120],"syndrome":[11],"characterized":[12],"by":[13],"hereditary":[14],"(cutaneous":[15],"and":[16,19,52,59,80,119],"uterine)":[17],"leiomyomatosis":[18],"renal":[20,70,93,124],"cell":[21,71,94],"cancer.":[22,125],"This":[23],"disorder":[24],"has":[25],"been":[26],"described":[27],"more":[29],"than":[30],"200":[31],"families,":[32],"but":[33],"the":[34,37,90],"prevalence":[35],"of":[36,46,65,69,89,92,123],"disease":[38],"is":[39],"unknown.":[40],"CASE:":[41],"A":[42],"22":[43],"year-old":[44],"woman":[45],"Bangladeshi":[47],"lineage":[48],"presented":[49],"with":[50,97,117],"menorrhagia":[51],"pelvic":[53],"pain":[54],"secondary":[55],"to":[56,82],"uterine":[57],"leiomyomas":[58,118],"underwent":[60],"an":[61,100],"abdominal":[62],"myomectomy.":[63],"Because":[64],"family":[67,121],"history":[68,122],"cancer,":[72],"she":[73],"was":[74,104],"tested":[75],"for":[76],"found":[81],"be":[83,112],"carrier.":[85],"As":[86],"risk":[91],"cancer":[95],"associated":[96],"this":[98],"mutation,":[99],"annual":[101],"surveillance":[102],"plan":[103],"initiated.":[105],"CONCLUSION:":[106],"Fumarate":[107],"should":[111],"considered":[113],"women":[115],"presenting":[116]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}