{"id":"https://openalex.org/W2102292863","doi":"https://doi.org/10.1136/jmg.39.8.611","title":"Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families","display_name":"Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families","publication_year":2002,"publication_date":"2002-08-01","ids":{"openalex":"https://openalex.org/W2102292863","doi":"https://doi.org/10.1136/jmg.39.8.611","mag":"2102292863","pmid":"https://pubmed.ncbi.nlm.nih.gov/12161607","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1735198"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.39.8.611","doi":"https://doi.org/10.1136/jmg.39.8.611","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.39.8.611","pdf_url":"https://jmg.bmj.com/content/jmedgenet/39/8/611.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/39/8/611.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000753119","display_name":"Noah D. Kauff","orcid":"https://orcid.org/0000-0001-7242-6156","observed_orcids":["https://orcid.org/0000-0001-7242-6156"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"N D Kauff","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014016108","display_name":"Pedro P\u00e9rez\u2010Segura","orcid":"https://orcid.org/0000-0001-5049-7199","observed_orcids":["https://orcid.org/0000-0001-5049-7199"]},"institutions":[{"id":"https://openalex.org/I121748325","display_name":"Universidad Complutense de Madrid","ror":"https://ror.org/02p0gd045","country_code":"ES","type":"education","lineage":["https://openalex.org/I121748325"]},{"id":"https://openalex.org/I2961216182","display_name":"Hospital Cl\u00ednico San Carlos","ror":"https://ror.org/04d0ybj29","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2961216182","https://openalex.org/I4210139293"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"P Perez-Segura","raw_affiliation_strings":["Department of Medical Oncology, San Carlos University Hospital, Madrid, Spain","Complutense University#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Oncology, San Carlos University Hospital, Madrid, Spain","institution_ids":["https://openalex.org/I2961216182"]},{"raw_affiliation_string":"Complutense University#TAB#","institution_ids":["https://openalex.org/I121748325"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045514288","display_name":"Mark E. Robson","orcid":"https://orcid.org/0000-0002-3109-1692","observed_orcids":["https://orcid.org/0000-0002-3109-1692"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M E Robson","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055561443","display_name":"Lauren Scheuer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L Scheuer","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008558108","display_name":"Beth Siegel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"B Siegel","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083426597","display_name":"Alice E. Schluger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A Schluger","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113659111","display_name":"Bernardo Rapaport","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"B Rapaport","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108649444","display_name":"Thomas S. Frank","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":"T S Frank","raw_affiliation_strings":["Myriad Genetics Laboratories, Salt Lake City, UT, USA","Myriad Genetics, Inc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Myriad Genetics Laboratories, Salt Lake City, UT, USA","institution_ids":["https://openalex.org/I4210166221"]},{"raw_affiliation_string":"Myriad Genetics, Inc","institution_ids":["https://openalex.org/I4210166221"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035795621","display_name":"Kh\u00e9doudja Nafa","orcid":"https://orcid.org/0000-0002-7467-6682","observed_orcids":["https://orcid.org/0000-0002-7467-6682"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K Nafa","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054189237","display_name":"Nathan A. Ellis","orcid":"https://orcid.org/0000-0003-4231-502X","observed_orcids":["https://orcid.org/0000-0003-4231-502X"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N A Ellis","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050977500","display_name":"Giovanni Parmigiani","orcid":"https://orcid.org/0000-0002-8783-5961","observed_orcids":["https://orcid.org/0000-0002-8783-5961"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"G Parmigiani","raw_affiliation_strings":["Departments of Oncology and Biostatistics, Johns Hopkins University, Baltimore, MD, USA","Johns Hopkins University ("],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Oncology and Biostatistics, Johns Hopkins University, Baltimore, MD, USA","institution_ids":["https://openalex.org/I145311948"]},{"raw_affiliation_string":"Johns Hopkins University (","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001757617","display_name":"Kenneth Offit","orcid":"https://orcid.org/0000-0002-2180-2032","observed_orcids":["https://orcid.org/0000-0002-2180-2032"]},"institutions":[{"id":"https://openalex.org/I1334819555","display_name":"Memorial Sloan Kettering Cancer Center","ror":"https://ror.org/02yrq0923","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1334819555"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K Offit","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","Memorial Sloan- Kettering Cancer Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA","institution_ids":["https://openalex.org/I1334819555"]},{"raw_affiliation_string":"Memorial Sloan- Kettering Cancer Center","institution_ids":["https://openalex.org/I1334819555"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5000753119"],"corresponding_institution_ids":["https://openalex.org/I1334819555"],"apc_list":null,"apc_paid":null,"fwci":3.6611,"has_fulltext":true,"cited_by_count":94,"citation_normalized_percentile":{"value":0.93362678,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"39","issue":"8","first_page":"611","last_page":"614"},"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/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"}}],"keywords":[{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.8100000023841858},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":1.0},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.9350000023841858},{"id":"https://openalex.org/keywords/ashkenazi-jewish-ancestry","display_name":"Ashkenazi Jewish ancestry","score":0.7979999780654907},{"id":"https://openalex.org/keywords/hereditary-breast-cancer","display_name":"hereditary breast cancer","score":0.8610000014305115},{"id":"https://openalex.org/keywords/hereditary-ovarian-cancer","display_name":"hereditary ovarian cancer","score":0.9900000095367432},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.7829999923706055},{"id":"https://openalex.org/keywords/genetic-isolate","display_name":"genetic isolate","score":0.4320000112056732},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.6150000095367432}],"concepts":[{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.8590603470802307},{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.7215006351470947},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6182327270507812},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.6017190217971802},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5106332898139954},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4897317886352539},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43264690041542053},{"id":"https://openalex.org/C2780194787","wikidata":"https://www.wikidata.org/wiki/Q4836333","display_name":"BRCA mutation","level":4,"score":0.41883713006973267},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.4188160002231598},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39828118681907654},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.39599835872650146},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.32080721855163574},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.2372969090938568},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.22750839591026306},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17416802048683167},{"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":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000453","qualifier_name":"epidemiology","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","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":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D024522","descriptor_name":"Genes, BRCA2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1136/jmg.39.8.611","doi":"https://doi.org/10.1136/jmg.39.8.611","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.39.8.611","pdf_url":"https://jmg.bmj.com/content/jmedgenet/39/8/611.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1735198","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1735198","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"J Med Genet","raw_type":"Text"},{"id":"pmid:12161607","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12161607","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":"Journal of medical genetics","raw_type":"Letter"}],"best_oa_location":{"id":"doi:10.1136/jmg.39.8.611","doi":"https://doi.org/10.1136/jmg.39.8.611","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.39.8.611","pdf_url":"https://jmg.bmj.com/content/jmedgenet/39/8/611.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309468","display_name":"Memorial Sloan-Kettering Cancer Center","ror":"https://ror.org/02yrq0923"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2102292863.pdf","grobid_xml":"https://content.openalex.org/works/W2102292863.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W169260567","https://openalex.org/W1514230496","https://openalex.org/W1804848583","https://openalex.org/W1908018333","https://openalex.org/W1934378440","https://openalex.org/W1980223679","https://openalex.org/W1993342975","https://openalex.org/W2005351661","https://openalex.org/W2009513951","https://openalex.org/W2017180321","https://openalex.org/W2019738273","https://openalex.org/W2023289335","https://openalex.org/W2024036407","https://openalex.org/W2028682388","https://openalex.org/W2038437309","https://openalex.org/W2053206835","https://openalex.org/W2061071119","https://openalex.org/W2073315776","https://openalex.org/W2085390184","https://openalex.org/W2086211371","https://openalex.org/W2089895854","https://openalex.org/W2093315055","https://openalex.org/W2097879961","https://openalex.org/W2103970959","https://openalex.org/W2115957711","https://openalex.org/W2137603964","https://openalex.org/W2143730928","https://openalex.org/W2145530374","https://openalex.org/W2147047601","https://openalex.org/W2147406390","https://openalex.org/W2148527784","https://openalex.org/W2151760397","https://openalex.org/W2156248204","https://openalex.org/W2323655901","https://openalex.org/W2328105863","https://openalex.org/W2416594583","https://openalex.org/W2798191126","https://openalex.org/W4323359902"],"related_works":["https://openalex.org/W19873900","https://openalex.org/W2738002284","https://openalex.org/W1811703586","https://openalex.org/W1976441711","https://openalex.org/W2073931597","https://openalex.org/W1546134956","https://openalex.org/W7096231554","https://openalex.org/W2902120307","https://openalex.org/W2999102594","https://openalex.org/W1973421344"],"abstract_inverted_index":{"Inherited":[0],"predisposition":[1,139],"to":[2,8,65,118,143,264,291],"cancer":[3,13,62,82,94,116,138,194],"is":[4,162,246],"a":[5,51,74,84,104,181,242,265],"major":[6],"contributor":[7],"the":[9,98,108,165,170,177,201,213,226,233,249,279],"breast":[10,81,113,191],"and":[11,45,114,192,206,216,222,238],"ovarian":[12,61,93,115,193],"burden":[14],"among":[15],"people":[16,24],"of":[17,22,25,31,57,68,76,101,111,121,135,148,155,172,183,200,212,220,235,274],"Ashkenazi":[18,26,80,129,178,184,203],"ancestry.":[19],"Approximately":[20],"2.5%":[21],"all":[23,275],"Jewish":[27,58,185],"descent":[28],"carry":[29,66],"one":[30,67,199],"three":[32,70,202],"ancient":[33],"(founder)":[34],"mutations":[35,120,147,175,205,240],"in":[36,43,47,90,97,125,176,241,252],"BRCA1":[37,44,122,149,221,237],"or":[38,41,123,151,256,259],"BRCA2":[39,124,152,223,239],"(185delAG":[40],"5382insC":[42],"6174delT":[46],"BRCA2)":[48],".1\u20133":[49],"In":[50,73],"recent":[52],"population":[53],"based":[54],"study,":[55],"29%":[56],"women":[59],"with":[60,131,248],"were":[63],"shown":[64,142],"these":[69,173],"founder":[71,85,105,119,204],"mutations.4":[72],"series":[75,182],"220":[77],"high":[78,109],"risk":[79,189],"families,":[83],"BRCA":[86,106,160],"mutation":[87,267],"was":[88,95],"detected":[89],"44%.":[91],"If":[92],"present":[96,180],"kindred,":[99],"73%":[100],"families":[102,130,156],"segregated":[103],"mutation.5\n\nDespite":[107],"proportion":[110],"hereditary":[112,188],"attributed":[117],"this":[126],"population,":[127,255],"some":[128],"histories":[132],"highly":[133],"suggestive":[134],"an":[136,253],"inherited":[137],"have":[140,208,230,262],"been":[141],"segregate":[144,198],"other":[145,260],"(non-founder)":[146],"6":[150],".7":[153],"Counselling":[154],"considering":[157],"full":[158,210],"sequence":[159],"genotyping":[161],"complicated":[163],"by":[164,278],"limited":[166],"information":[167],"available":[168],"regarding":[169],"incidence":[171],"non-founder":[174,236,266],"population.\n\nWe":[179],"kindreds":[186],"at":[187,283],"for":[190],"who":[195,207],"do":[196],"not":[197],"undergone":[209],"sequencing":[211],"coding":[214],"regions":[215,219],"flanking":[217],"intronic":[218],".":[224],"Using":[225],"BRCAPRO":[227],"algorithm,":[228],"we":[229],"estimated":[231],"whether":[232],"prevalence":[234],"genetic":[243],"isolate":[244],"(Ashkenazim)":[245],"consistent":[247],"background":[250],"rate":[251,268],"admixed":[254],"if":[257],"selective":[258],"effects":[261],"led":[263],"lower":[269],"than":[270],"would":[271],"be":[272],"expected.\n\nRecords":[273],"patients":[276],"seen":[277],"Clinical":[280],"Genetics":[281],"Service":[282],"Memorial":[284],"Sloan-Kettering":[285],"Cancer":[286],"Center":[287],"(MSKCC)":[288],"from":[289],"1.6.95":[290],"\u2026":[292]},"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":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
