{"id":"https://openalex.org/W2348439745","doi":null,"title":"Analysis of BRCA1 Mutations among Familial and/or Breast Cancer Praecox Patients in the East of Shandong in China","display_name":"Analysis of BRCA1 Mutations among Familial and/or Breast Cancer Praecox Patients in the East of Shandong in China","publication_year":2009,"publication_date":"2009-01-01","ids":{"openalex":"https://openalex.org/W2348439745","mag":"2348439745"},"language":"en","primary_location":{"id":"mag:2348439745","doi":null,"is_oa":false,"landing_page_url":"http://en.cnki.com.cn/Article_en/CJFDTOTAL-SWCX200906010.htm","pdf_url":null,"source":{"id":"https://openalex.org/S2764952023","display_name":"Xiandai shengwu yixue jinzhan","issn_l":"1673-6273","issn":["1673-6273"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4361727479","host_organization_name":"Heilongjiang Red Cross Society","host_organization_lineage":["https://openalex.org/P4361727479"],"host_organization_lineage_names":["Heilongjiang Red Cross Society"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Xiandai shengwu yixue jinzhan","raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5101560783","display_name":"Bin Kong","orcid":"https://orcid.org/0009-0002-8235-4437","observed_orcids":["https://orcid.org/0009-0002-8235-4437"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Bin Kong","raw_affiliation_strings":["Li Wen-feng2, Shao Zhi-min3"],"raw_orcid":"https://orcid.org/0009-0002-8235-4437","affiliations":[{"raw_affiliation_string":"Li Wen-feng2, Shao Zhi-min3","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5101560783"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1484,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.53856563,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"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-mutation","display_name":"BRCA1 mutation","score":0.9490000009536743},{"id":"https://openalex.org/keywords/early-onset-breast-cancer","display_name":"early-onset breast cancer","score":0.8889999985694885},{"id":"https://openalex.org/keywords/hereditary-breast-cancer","display_name":"hereditary breast cancer","score":0.9909999966621399},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.5910000205039978},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.625},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.6669999957084656}],"concepts":[{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.837105929851532},{"id":"https://openalex.org/C2776053618","wikidata":"https://www.wikidata.org/wiki/Q3022285","display_name":"Denaturing high performance liquid chromatography","level":4,"score":0.7587378025054932},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5749984979629517},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5306528806686401},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5268871784210205},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5233142375946045},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.4706520140171051},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.43012934923171997},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.42367643117904663},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42314350605010986},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41080939769744873},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3938184082508087},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.36082398891448975},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2348439745","doi":null,"is_oa":false,"landing_page_url":"http://en.cnki.com.cn/Article_en/CJFDTOTAL-SWCX200906010.htm","pdf_url":null,"source":{"id":"https://openalex.org/S2764952023","display_name":"Xiandai shengwu yixue jinzhan","issn_l":"1673-6273","issn":["1673-6273"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4361727479","host_organization_name":"Heilongjiang Red Cross Society","host_organization_lineage":["https://openalex.org/P4361727479"],"host_organization_lineage_names":["Heilongjiang Red Cross Society"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Xiandai shengwu yixue jinzhan","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9940000176429749,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2115164128","https://openalex.org/W1568615316","https://openalex.org/W89349328","https://openalex.org/W2080382519","https://openalex.org/W2410245265","https://openalex.org/W2768165325","https://openalex.org/W2054223344","https://openalex.org/W2009337136","https://openalex.org/W2394218861","https://openalex.org/W1580816323"],"abstract_inverted_index":{"Objective:":[0],"To":[1],"study":[2],"the":[3,35,41,61,132,145],"BRCA1":[4,48,76,138],"mutations":[5,74,118],"in":[6,14,75,92,104,122,131,144,149,164],"Chinese":[7],"patients":[8,24,163],"with":[9,66],"early-onset":[10,21,133],"breast":[11,22,124,134,147,161],"cancer":[12,23,125,135,148,162],"and":[13,40,44,89,111,127],"affected":[15],"relatives.":[16],"Methods:":[17],"Fifty-two":[18],"familial":[19,123,146,160],"and/or":[20],"from":[25,34,78],"unrelated":[26,80,94],"family":[27],"were":[28,50,64,82,120],"analyzed.":[29],"Genomic":[30],"DNA":[31,68],"was":[32,112],"collected":[33],"peripheral":[36],"blood":[37],"mononuclear":[38],"cells,":[39],"coding":[42],"sequences":[43],"exon-intron":[45],"boundaries":[46],"of":[47,73],"genes":[49],"screened":[51],"by":[52],"using":[53],"denaturing":[54],"high":[55],"performance":[56],"liquid":[57],"chromatography":[58],"(DHPLC).":[59],"Then":[60],"abnormal":[62],"fragments":[63],"confirmed":[65],"direct":[67],"sequencing.":[69],"Results:":[70],"Three":[71],"kinds":[72],"gene":[77],"four":[79],"families":[81],"identified.":[83],"They":[84],"are":[85],"2257CG,":[86],"2229de-lAA,":[87],"3413delT":[88,96],"2229delAA":[90],"found":[91],"two":[93],"families.":[95],"is":[97,153],"a":[98],"novel":[99],"mutation":[100,129],"that":[101],"doesn't":[102],"exist":[103],"Breast":[105],"Cancer":[106],"Information":[107],"Core":[108],"(BIC)":[109],"database":[110],"not":[113],"reported":[114],"before.":[115],"Moreover,":[116],"three":[117],"(12%)":[119],"identified":[121],"patients,":[126],"one":[128],"(3.7%)":[130],"patients.":[136],"Conclusions:":[137],"may":[139],"play":[140],"an":[141],"important":[142],"role":[143],"this":[150,165],"population.":[151,166],"It":[152],"necessary":[154],"to":[155],"give":[156],"genetic":[157],"test":[158],"for":[159]},"counts_by_year":[{"year":2016,"cited_by_count":1}],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}
