{"id":"https://openalex.org/W60322108","doi":null,"title":"[Rapid detection of BRCA-1 germline mutations by the protein truncation test in Tunisian families].","display_name":"[Rapid detection of BRCA-1 germline mutations by the protein truncation test in Tunisian families].","publication_year":2002,"publication_date":"2002-09-01","ids":{"openalex":"https://openalex.org/W60322108","mag":"60322108","pmid":"https://pubmed.ncbi.nlm.nih.gov/12632763"},"language":"fr","primary_location":{"id":"pmid:12632763","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12632763","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":"La Tunisie medicale","raw_type":"English Abstract"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5054269710","display_name":"Kamel Monastiri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Kamel Monastiri","raw_affiliation_strings":["Laboratoire de Recherche d'Immuno-Oncologie Mol\u00e9culaire, facult\u00e9 de M\u00e9decine de Monastir"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Recherche d'Immuno-Oncologie Mol\u00e9culaire, facult\u00e9 de M\u00e9decine de Monastir","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013702971","display_name":"Slim Ben Ahmed","orcid":"https://orcid.org/0000-0001-8925-7416","observed_orcids":["https://orcid.org/0000-0001-8925-7416"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Slim Ben Ahmed","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065531300","display_name":"Nad\u00e8ge Presneau","orcid":"https://orcid.org/0000-0002-2107-6691","observed_orcids":["https://orcid.org/0000-0002-2107-6691"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nad\u00e9ge Presneau","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Jean Yves Bignon","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jean Yves Bignon","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5050542224","display_name":"Lotfi Chouchane","orcid":"https://orcid.org/0000-0002-2082-7924","observed_orcids":["https://orcid.org/0000-0002-2082-7924"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lotfi Chouchane","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.00540066,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":"80","issue":"9","first_page":"515","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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/T11134","display_name":"Breast Lesions and Carcinomas","score":0.0,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"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/brca1","display_name":"BRCA1","score":0.9120000004768372},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.968999981880188},{"id":"https://openalex.org/keywords/protein-truncation-test","display_name":"protein truncation test","score":0.996999979019165},{"id":"https://openalex.org/keywords/hereditary-breast-cancer","display_name":"hereditary breast cancer","score":0.8090000152587891},{"id":"https://openalex.org/keywords/early-onset-breast-cancer","display_name":"early-onset breast cancer","score":0.8989999890327454},{"id":"https://openalex.org/keywords/ovarian-cancer-predisposition","display_name":"ovarian cancer predisposition","score":0.7749999761581421},{"id":"https://openalex.org/keywords/exon-11","display_name":"exon 11","score":0.8769999742507935},{"id":"https://openalex.org/keywords/tunisian-women","display_name":"Tunisian women","score":0.6299999952316284},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.3799999952316284}],"concepts":[{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.7559370994567871},{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.7499326467514038},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.615670919418335},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6149541735649109},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5926656723022461},{"id":"https://openalex.org/C2909462720","wikidata":"https://www.wikidata.org/wiki/Q421651","display_name":"BRCA2 Protein","level":5,"score":0.5516812801361084},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5402699112892151},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5399158000946045},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5220634341239929},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.482530802488327},{"id":"https://openalex.org/C2780194787","wikidata":"https://www.wikidata.org/wiki/Q4836333","display_name":"BRCA mutation","level":4,"score":0.4730236530303955},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4650726318359375},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4357113540172577},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4322108328342438},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.42050665616989136},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36318689584732056},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","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":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019398","descriptor_name":"Genes, BRCA1","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}],"locations_count":3,"locations":[{"id":"pmid:12632763","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12632763","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":"La Tunisie medicale","raw_type":"English Abstract"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:62017","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/62017/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Tunis Med , 80 (9) pp. 515-518. (2002)","raw_type":"Article"},{"id":"mag:60322108","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12632763","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","score":0.9907000064849854,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2136236200","https://openalex.org/W1515700905","https://openalex.org/W2278235270","https://openalex.org/W2410151161","https://openalex.org/W2065398377","https://openalex.org/W7218036929","https://openalex.org/W2078625708","https://openalex.org/W1994394560","https://openalex.org/W2056506762","https://openalex.org/W2146251045"],"abstract_inverted_index":{"UNLABELLED:":[0],"Early-onset":[1],"breast":[2,33,65,86],"cancer":[3,8,36,162],"characterize":[4],"genetic":[5],"predisposition":[6,19,159],"to":[7,49,112,147,149,160,167],"in":[9,30,40,60,74,115,135,155,163,172,176],"women.":[10],"BRCA-1":[11,52,144,174],"gene":[12,145],"was":[13],"identified":[14],"as":[15],"one":[16,136],"of":[17,21,26,45,121,126],"the":[18,27,31,55],"genes":[20],"breast/ovarian":[22,161],"cancer.":[23,66,102],"About":[24],"90%":[25],"reported":[28],"mutations":[29,53,114,175],"hereditary":[32,158],"and":[34,68,132],"ovarian":[35],"gene,":[37],"BRCA-1,":[38],"result":[39],"truncated":[41,133],"proteins.":[42],"The":[43],"aim":[44],"our":[46,177],"study":[47],"is":[48],"detect":[50],"rapidly":[51],"by":[54,110],"protein":[56,134],"truncation":[57],"test":[58],"(PTT)":[59],"Tunisian":[61],"women":[62,81,96,104,156],"with":[63,76,85,100,157],"early":[64],"Population":[67],"methods.":[69],"We":[70],"underwent":[71],"molecular":[72],"analysis":[73,125],"families":[75,107],"more":[77],"than:":[78],"(a)":[79],"a":[80,130,169],"under":[82,97],"40":[83],"years-old":[84,99],"cancer,":[87],"uni":[88],"or":[89,153],"bilateral;":[90],"(b)":[91],"two":[92],"1st":[93],"degree":[94],"relatives":[95],"50":[98],"beast":[101],"Sixteen":[103],"from":[105,140],"12":[106,141],"were":[108],"studied":[109],"PTT":[111,124,165],"screen":[113],"exon":[116,127],"11":[117,128],"which":[118],"encodes":[119],"61%":[120],"BRCA-1.":[122],"RESULTS:":[123],"revealed":[129],"normal":[131],"patient":[137],"between":[138],"16":[139],"families.":[142],"CONCLUSION:":[143],"seems":[146],"contribute":[148],"at":[150],"least":[151],"1/16":[152],"6.25%":[154],"Tunisia.":[164],"promises":[166],"be":[168],"valuable":[170],"technique":[171],"detecting":[173],"country.":[178]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
