{"id":"https://openalex.org/W2018646138","doi":"https://doi.org/10.1089/gte.2006.10.200","title":"The P1812A and P25T BRCA1 and the 5164del4 BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews","display_name":"The P1812A and P25T BRCA1 and the 5164del4 BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews","publication_year":2006,"publication_date":"2006-09-01","ids":{"openalex":"https://openalex.org/W2018646138","doi":"https://doi.org/10.1089/gte.2006.10.200","mag":"2018646138","pmid":"https://pubmed.ncbi.nlm.nih.gov/17020472"},"language":"en","primary_location":{"id":"doi:10.1089/gte.2006.10.200","doi":"https://doi.org/10.1089/gte.2006.10.200","is_oa":false,"landing_page_url":"https://doi.org/10.1089/gte.2006.10.200","pdf_url":null,"source":{"id":"https://openalex.org/S7851167","display_name":"Genetic Testing","issn_l":"1090-6576","issn":["1090-6576","1557-7473"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Testing","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/A5050390557","display_name":"Bella Kaufman","orcid":"https://orcid.org/0000-0002-4236-3374","observed_orcids":["https://orcid.org/0000-0002-4236-3374"]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Bella Kaufman","raw_affiliation_strings":["Oncology Division and the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncology Division and the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107839689","display_name":"Yael Laitman","orcid":"https://orcid.org/0000-0001-7338-0233","observed_orcids":["https://orcid.org/0000-0001-7338-0233"]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yael Laitman","raw_affiliation_strings":["Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067073844","display_name":"Marcelo Alex Carvalho","orcid":"https://orcid.org/0000-0002-7053-0053","observed_orcids":["https://orcid.org/0000-0002-7053-0053"]},"institutions":[{"id":"https://openalex.org/I3019308854","display_name":"Moffitt Cancer Center","ror":"https://ror.org/01xf75524","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I3019308854"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marcelo A. Carvalho","raw_affiliation_strings":["Cancer Prevention and Control Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Prevention and Control Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida","institution_ids":["https://openalex.org/I3019308854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021188199","display_name":"Limor Edelman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Limor Edelman","raw_affiliation_strings":["Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082895672","display_name":"Tal Distelman-Menachem","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Tal Distelman Menachem","raw_affiliation_strings":["Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113569932","display_name":"Jamal Zidan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jamal Zidan","raw_affiliation_strings":["Oncology Unit, Rivkah Sieff Medical Center, Zefat, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncology Unit, Rivkah Sieff Medical Center, Zefat, Israel","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069902711","display_name":"\u00c1lvaro N.A. Monteiro","orcid":"https://orcid.org/0000-0002-8448-4801","observed_orcids":["https://orcid.org/0000-0002-8448-4801"]},"institutions":[{"id":"https://openalex.org/I3019308854","display_name":"Moffitt Cancer Center","ror":"https://ror.org/01xf75524","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I3019308854"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alvaro N. Monteiro","raw_affiliation_strings":["Cancer Prevention and Control Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Prevention and Control Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida","institution_ids":["https://openalex.org/I3019308854"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5031247002","display_name":"Eitan Friedman","orcid":"https://orcid.org/0000-0002-6745-1733","observed_orcids":["https://orcid.org/0000-0002-6745-1733"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Eitan Friedman","raw_affiliation_strings":["Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel","Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1893,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.56262593,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"10","issue":"3","first_page":"200","last_page":"207"},"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":0.925000011920929},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.9850000143051147},{"id":"https://openalex.org/keywords/non-ashkenazi-jews","display_name":"non-Ashkenazi Jews","score":0.9860000014305115},{"id":"https://openalex.org/keywords/high-risk-families","display_name":"high-risk families","score":0.8610000014305115},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.7860000133514404},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"pathogenicity","score":0.7419999837875366},{"id":"https://openalex.org/keywords/reporter-gene-assay","display_name":"reporter gene assay","score":0.6269999742507935},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.9440000057220459}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5075422525405884},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3660101890563965}],"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":"D000409","descriptor_name":"Alanine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007585","descriptor_name":"Jews","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","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":"D011392","descriptor_name":"Proline","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013912","descriptor_name":"Threonine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019313","descriptor_name":"BRCA1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D024682","descriptor_name":"BRCA2 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1089/gte.2006.10.200","doi":"https://doi.org/10.1089/gte.2006.10.200","is_oa":false,"landing_page_url":"https://doi.org/10.1089/gte.2006.10.200","pdf_url":null,"source":{"id":"https://openalex.org/S7851167","display_name":"Genetic Testing","issn_l":"1090-6576","issn":["1090-6576","1557-7473"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Testing","raw_type":"journal-article"},{"id":"pmid:17020472","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17020472","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":"Genetic testing","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"sustainable_development_goals_aurora":[],"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":30,"referenced_works":["https://openalex.org/W89794111","https://openalex.org/W177339463","https://openalex.org/W1484955509","https://openalex.org/W1514230496","https://openalex.org/W1546134956","https://openalex.org/W1939367625","https://openalex.org/W1959714927","https://openalex.org/W1972103684","https://openalex.org/W2000236153","https://openalex.org/W2010730553","https://openalex.org/W2030093162","https://openalex.org/W2045655840","https://openalex.org/W2051702498","https://openalex.org/W2066932159","https://openalex.org/W2090740451","https://openalex.org/W2093542878","https://openalex.org/W2109465247","https://openalex.org/W2131770328","https://openalex.org/W2135023031","https://openalex.org/W2135339201","https://openalex.org/W2141752671","https://openalex.org/W2146167160","https://openalex.org/W2146966931","https://openalex.org/W2151760397","https://openalex.org/W2151968619","https://openalex.org/W2166437346","https://openalex.org/W2414990276","https://openalex.org/W2772971838","https://openalex.org/W2989345970","https://openalex.org/W4240006038"],"related_works":["https://openalex.org/W2151760397","https://openalex.org/W7096231554","https://openalex.org/W2051702498","https://openalex.org/W2003051687","https://openalex.org/W1990255234","https://openalex.org/W2076255329","https://openalex.org/W2092209639","https://openalex.org/W1976441711","https://openalex.org/W2045655840","https://openalex.org/W1605900917"],"abstract_inverted_index":{"Founder":[0],"mutations":[1,30,52,81,103,110],"in":[2,11,41,53,85,111,125,131],"the":[3,12,47,71,89,95,118,121,139,159],"BRCA1":[4,29,99,122,140,162],"and":[5,33,74,97,100,133],"BRCA2":[6,35,102],"genes":[7],"have":[8,38],"been":[9,22,39],"discovered":[10,23],"Ashkenazic":[13],"Jewish":[14],"population,":[15],"but":[16],"a":[17,34,146],"founder":[18,109],"mutation(s)":[19],"has":[20],"not":[21,105],"among":[24],"non-Ashkenazi":[25],"Jews":[26],"(NAJ).":[27],"Two":[28],"(P1812A,":[31],"P25T),":[32],"mutation":[36,124],"(5164del4)":[37],"detected":[40,83],"NAJ":[42,56,112],"high-risk":[43,55,113],"families.":[44,91,114],"We":[45,92,115,136],"studied":[46],"prevalence":[48],"of":[49,120,161],"these":[50],"three":[51,80],"270":[54],"families,":[57],"including":[58],"85":[59],"from":[60,63,67,70],"Iraq/Iran,":[61],"67":[62],"North":[64],"Africa,":[65],"27":[66],"Yemen,":[68],"50":[69],"Balkan":[72],"region,":[73],"41":[75],"with":[76],"mixed":[77],"ancestry.":[78],"The":[79],"were":[82],"only":[84],"individuals":[86],"related":[87],"to":[88,107,158],"original":[90],"conclude":[93],"that":[94,138],"P1812A":[96,123,141],"P25T":[98],"5164del4":[101],"are":[104],"likely":[106],"be":[108],"also":[116],"assessed":[117],"pathogenicity":[119,160],"vitro":[126],"using":[127],"reporter":[128,149],"gene":[129,150],"assays":[130,144],"yeast":[132],"mammalian":[134],"cells.":[135],"found":[137],"variant":[142],"activity":[143],"yielded":[145],"slightly":[147],"reduced":[148],"activity.":[151],"Thus,":[152],"there":[153],"is":[154],"some":[155],"uncertainty":[156],"as":[157],"P1812A.":[163]},"counts_by_year":[{"year":2019,"cited_by_count":2},{"year":2018,"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"}