{"id":"https://openalex.org/W1973161750","doi":"https://doi.org/10.1158/1055-9965.epi-07-0198","title":"Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families","display_name":"Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families","publication_year":2007,"publication_date":"2007-08-01","ids":{"openalex":"https://openalex.org/W1973161750","doi":"https://doi.org/10.1158/1055-9965.epi-07-0198","mag":"1973161750","pmid":"https://pubmed.ncbi.nlm.nih.gov/17646271"},"language":"en","primary_location":{"id":"doi:10.1158/1055-9965.epi-07-0198","doi":"https://doi.org/10.1158/1055-9965.epi-07-0198","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1055-9965.epi-07-0198","pdf_url":null,"source":{"id":"https://openalex.org/S8391440","display_name":"Cancer Epidemiology Biomarkers & Prevention","issn_l":"1055-9965","issn":["1055-9965","1538-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Epidemiology, Biomarkers &amp; Prevention","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/A5029960276","display_name":"Jeffrey N. Weitzel","orcid":"https://orcid.org/0000-0001-6714-092X","observed_orcids":["https://orcid.org/0000-0001-6714-092X"]},"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"]},{"id":"https://openalex.org/I4210110459","display_name":"City of Hope","ror":"https://ror.org/01z1vct10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey N. Weitzel","raw_affiliation_strings":["1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","Department of Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA 91010, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]},{"raw_affiliation_string":"Department of Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA 91010, USA","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001806185","display_name":"Veronica I. Lagos","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"]},{"id":"https://openalex.org/I4210110459","display_name":"City of Hope","ror":"https://ror.org/01z1vct10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Veronica I. Lagos","raw_affiliation_strings":["1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","CITY OF HOPE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]},{"raw_affiliation_string":"CITY OF HOPE","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004728115","display_name":"Josef Herzog","orcid":"https://orcid.org/0000-0002-6372-3711","observed_orcids":["https://orcid.org/0000-0002-6372-3711"]},"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"]},{"id":"https://openalex.org/I4210110459","display_name":"City of Hope","ror":"https://ror.org/01z1vct10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Josef S. Herzog","raw_affiliation_strings":["1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","CITY OF HOPE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]},{"raw_affiliation_string":"CITY OF HOPE","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071810200","display_name":"Thaddeus Judkins","orcid":"https://orcid.org/0000-0003-2662-4658","observed_orcids":["https://orcid.org/0000-0003-2662-4658"]},"institutions":[{"id":"https://openalex.org/I4210166221","display_name":"Myriad Genetics","ror":"https://ror.org/05rpz9q70","country_code":"US","type":"company","lineage":["https://openalex.org/I4210166221"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thaddeus Judkins","raw_affiliation_strings":["2Clinical Development Division, Myriad Genetics Laboratories, Inc., Salt Lake City, Utah; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Clinical Development Division, Myriad Genetics Laboratories, Inc., Salt Lake City, Utah; and","institution_ids":["https://openalex.org/I4210166221"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111624332","display_name":"Brant C. Hendrickson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210166221","display_name":"Myriad Genetics","ror":"https://ror.org/05rpz9q70","country_code":"US","type":"company","lineage":["https://openalex.org/I4210166221"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brant Hendrickson","raw_affiliation_strings":["2Clinical Development Division, Myriad Genetics Laboratories, Inc., Salt Lake City, Utah; and","Genzyme Corporation"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Clinical Development Division, Myriad Genetics Laboratories, Inc., Salt Lake City, Utah; and","institution_ids":["https://openalex.org/I4210166221"]},{"raw_affiliation_string":"Genzyme Corporation","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037519212","display_name":"Jason S. Ho","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"]},{"id":"https://openalex.org/I4210110459","display_name":"City of Hope","ror":"https://ror.org/01z1vct10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jason S. Ho","raw_affiliation_strings":["1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","CITY OF HOPE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]},{"raw_affiliation_string":"CITY OF HOPE","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060898889","display_name":"Charite Nicolette Ricker","orcid":"https://orcid.org/0000-0002-0620-9345","observed_orcids":["https://orcid.org/0000-0002-0620-9345"]},"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"]},{"id":"https://openalex.org/I4210110459","display_name":"City of Hope","ror":"https://ror.org/01z1vct10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charite\u0301 N. Ricker","raw_affiliation_strings":["1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046860909","display_name":"Katrina J. Lowstuter","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"]},{"id":"https://openalex.org/I4210110459","display_name":"City of Hope","ror":"https://ror.org/01z1vct10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katrina J. Lowstuter","raw_affiliation_strings":["1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","CITY OF HOPE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]},{"raw_affiliation_string":"CITY OF HOPE","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000017772","display_name":"Kathleen Reilly Blazer","orcid":"https://orcid.org/0000-0001-8002-7892","observed_orcids":["https://orcid.org/0000-0001-8002-7892"]},"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"]},{"id":"https://openalex.org/I4210110459","display_name":"City of Hope","ror":"https://ror.org/01z1vct10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen R. Blazer","raw_affiliation_strings":["1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","CITY OF HOPE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Clinical Cancer Genetics, City of Hope, Duarte, California;","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]},{"raw_affiliation_string":"CITY OF HOPE","institution_ids":["https://openalex.org/I1301076528","https://openalex.org/I4210110459"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055519116","display_name":"Gail Elizabeth Tomlinson","orcid":"https://orcid.org/0000-0003-2579-1833","observed_orcids":["https://orcid.org/0000-0003-2579-1833"]},"institutions":[{"id":"https://openalex.org/I165951966","display_name":"The University of Texas at San Antonio Health Science Center","ror":"https://ror.org/02f6dcw23","country_code":"US","type":"education","lineage":["https://openalex.org/I165951966","https://openalex.org/I45438204"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gail Tomlinson","raw_affiliation_strings":["3Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas","institution_ids":["https://openalex.org/I165951966"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086271716","display_name":"Tom Scholl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210166221","display_name":"Myriad Genetics","ror":"https://ror.org/05rpz9q70","country_code":"US","type":"company","lineage":["https://openalex.org/I4210166221"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tom Scholl","raw_affiliation_strings":["2Clinical Development Division, Myriad Genetics Laboratories, Inc., Salt Lake City, Utah; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Clinical Development Division, Myriad Genetics Laboratories, Inc., Salt Lake City, Utah; and","institution_ids":["https://openalex.org/I4210166221"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.6404,"has_fulltext":false,"cited_by_count":96,"citation_normalized_percentile":{"value":0.90249498,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"16","issue":"8","first_page":"1615","last_page":"1620"},"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/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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.984000027179718},{"id":"https://openalex.org/keywords/large-genomic-rearrangements","display_name":"large genomic rearrangements","score":0.843999981880188},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.7630000114440918},{"id":"https://openalex.org/keywords/latino-families","display_name":"Latino families","score":0.7310000061988831},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.890999972820282},{"id":"https://openalex.org/keywords/alu-elements","display_name":"Alu elements","score":0.7070000171661377},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7860000133514404},{"id":"https://openalex.org/keywords/splicing","display_name":"splicing","score":0.4399999976158142},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.7480000257492065},{"id":"https://openalex.org/keywords/mutation-detection-assay","display_name":"mutation detection assay","score":0.5649999976158142}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.807257890701294},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7905426025390625},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6172688603401184},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.6001027822494507},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5783265233039856},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.5758882761001587},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.4979062080383301},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.4535754919052124},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.44943228363990784},{"id":"https://openalex.org/C48931128","wikidata":"https://www.wikidata.org/wiki/Q412199","display_name":"Alu element","level":5,"score":0.4465908706188202},{"id":"https://openalex.org/C2777563447","wikidata":"https://www.wikidata.org/wiki/Q7243397","display_name":"Primer (cosmetics)","level":2,"score":0.4462748169898987},{"id":"https://openalex.org/C61053724","wikidata":"https://www.wikidata.org/wiki/Q1154615","display_name":"Sequence analysis","level":3,"score":0.4303117096424103},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4189508855342865},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.35128718614578247},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2841721475124359},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.19343140721321106},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.19281437993049622},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15517657995224},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.1063680648803711},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.0976179838180542},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"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":"D001483","descriptor_name":"Base Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001741","descriptor_name":"Black or African American","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003001","descriptor_name":"Cloning, Molecular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006630","descriptor_name":"Hispanic or Latino","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007198","descriptor_name":"Indians, North American","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015321","descriptor_name":"Gene Rearrangement","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017398","descriptor_name":"Alternative Splicing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018388","descriptor_name":"Codon, Terminator","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019398","descriptor_name":"Genes, BRCA1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053960","descriptor_name":"DNA Breaks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1158/1055-9965.epi-07-0198","doi":"https://doi.org/10.1158/1055-9965.epi-07-0198","is_oa":false,"landing_page_url":"https://doi.org/10.1158/1055-9965.epi-07-0198","pdf_url":null,"source":{"id":"https://openalex.org/S8391440","display_name":"Cancer Epidemiology Biomarkers & Prevention","issn_l":"1055-9965","issn":["1055-9965","1538-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Epidemiology, Biomarkers &amp; Prevention","raw_type":"journal-article"},{"id":"pmid:17646271","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17646271","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":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G5900184332","display_name":"General Clinical Research Center","funder_award_id":"M01RR000043","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":38,"referenced_works":["https://openalex.org/W15554998","https://openalex.org/W1970424036","https://openalex.org/W1974115274","https://openalex.org/W1985371509","https://openalex.org/W2005351661","https://openalex.org/W2011541592","https://openalex.org/W2021731656","https://openalex.org/W2036108263","https://openalex.org/W2041214480","https://openalex.org/W2054665634","https://openalex.org/W2054703183","https://openalex.org/W2058539495","https://openalex.org/W2083239072","https://openalex.org/W2087480495","https://openalex.org/W2091272705","https://openalex.org/W2093293314","https://openalex.org/W2093542878","https://openalex.org/W2103195302","https://openalex.org/W2110569631","https://openalex.org/W2111398267","https://openalex.org/W2113926943","https://openalex.org/W2118175455","https://openalex.org/W2120059431","https://openalex.org/W2125295883","https://openalex.org/W2129990146","https://openalex.org/W2136474600","https://openalex.org/W2140998397","https://openalex.org/W2141093240","https://openalex.org/W2145530374","https://openalex.org/W2147406390","https://openalex.org/W2148353533","https://openalex.org/W2151413771","https://openalex.org/W2151907474","https://openalex.org/W2166110220","https://openalex.org/W2171439968","https://openalex.org/W2313281246","https://openalex.org/W2323655901","https://openalex.org/W4317638975"],"related_works":["https://openalex.org/W3011651162","https://openalex.org/W2047845324","https://openalex.org/W2172150703","https://openalex.org/W2039453863","https://openalex.org/W2075226066","https://openalex.org/W2245683698","https://openalex.org/W2461339653","https://openalex.org/W1969689659","https://openalex.org/W2408710300","https://openalex.org/W2095145421"],"abstract_inverted_index":{"BACKGROUND:":[0],"Large":[1],"rearrangements":[2],"account":[3],"for":[4,95,232,238],"8%":[5],"to":[6,40,65,70,165],"15%":[7],"of":[8,20,47,86,102,122,157,162,175,193,198,207,210,223,225],"deleterious":[9],"BRCA":[10,32,226],"mutations,":[11],"although":[12],"none":[13],"have":[14],"been":[15],"characterized":[16,183],"previously":[17],"in":[18,110,141,148,168,189,220],"individuals":[19],"Mexican":[21,194],"ancestry.":[22,155],"METHODS:":[23],"DNA":[24],"from":[25,83],"106":[26],"Hispanic":[27,228,241],"patients":[28],"without":[29],"an":[30,138,145],"identifiable":[31],"mutation":[33,171,234],"by":[34,80],"exonic":[35],"sequence":[36,73],"analysis":[37,92,152],"was":[38,54,63,93,108,129,218],"subjected":[39],"multiplexed":[41],"quantitative":[42],"differential":[43],"PCR.":[44],"One":[45],"case":[46],"Native":[48,201],"American":[49,52,202],"and":[50,69,72,116,144,172,182,196,200],"African":[51,199],"ancestry":[53,195],"identified":[55,109,136,181],"via":[56],"multiplex":[57],"ligation-dependent":[58],"probe":[59],"amplification.":[60],"Long-range":[61,114],"PCR":[62,115,127],"used":[64],"confirm":[66],"deletion":[67,101,120,134,188],"events":[68],"clone":[71],"genomic":[74],"breakpoints.":[75],"Splicing":[76],"patterns":[77],"were":[78],"derived":[79],"sequencing":[81,117],"cDNA":[82,158],"reverse":[84],"transcription-PCR":[85],"lymphoblastoid":[87],"cell":[88],"line":[89],"RNA.":[90],"Haplotype":[91,151],"conducted":[94],"recurrent":[96],"mutations.":[97],"RESULTS:":[98],"The":[99],"same":[100],"BRCA1":[103,177,187,216],"exons":[104,163],"9":[105],"through":[106],"12":[107],"five":[111,190],"unrelated":[112,191],"families.":[113,229],"indicated":[118],"a":[119,169,184],"event":[121],"14.7":[123],"kb.":[124],"A":[125],"3-primer":[126],"assay":[128,231],"designed":[130],"based":[131],"on":[132],"the":[133,176,205],"breakpoints,":[135],"within":[137],"AluSp":[139],"element":[140,147],"intron":[142,149],"8":[143,164],"AluSx":[146],"12.":[150],"confirmed":[153],"common":[154],"Analysis":[156],"showed":[159],"direct":[160],"splicing":[161],"13,":[166],"resulting":[167],"frameshift":[170],"predicted":[173],"truncation":[174],"protein.":[178],"CONCLUSIONS:":[179],"We":[180],"novel":[185],"large":[186],"families-four":[192],"one":[197],"ancestry,":[203],"suggesting":[204],"possibility":[206],"founder":[208],"effect":[209],"Amerindian":[211],"or":[212],"Mestizo":[213],"origin.":[214],"This":[215],"rearrangement":[217],"detected":[219],"3.8%":[221],"(4":[222],"106)":[224],"sequence-negative":[227,239],"An":[230],"this":[233],"should":[235],"be":[236],"considered":[237],"high-risk":[240],"patients.":[242]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":9}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
