{"id":"https://openalex.org/W2936825481","doi":"https://doi.org/10.1007/s10549-019-05228-6","title":"Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms","display_name":"Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms","publication_year":2019,"publication_date":"2019-04-12","ids":{"openalex":"https://openalex.org/W2936825481","doi":"https://doi.org/10.1007/s10549-019-05228-6","mag":"2936825481","pmid":"https://pubmed.ncbi.nlm.nih.gov/30980208"},"language":"en","primary_location":{"id":"doi:10.1007/s10549-019-05228-6","doi":"https://doi.org/10.1007/s10549-019-05228-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10549-019-05228-6","pdf_url":null,"source":{"id":"https://openalex.org/S142211178","display_name":"Breast Cancer Research and Treatment","issn_l":"0167-6806","issn":["0167-6806","1573-7217"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Breast Cancer Research and Treatment","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/A5091379071","display_name":"Rinat Bernstein\u2010Molho","orcid":"https://orcid.org/0000-0002-4068-9514","observed_orcids":["https://orcid.org/0000-0002-4068-9514"]},"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":"Rinat Bernstein-Molho","raw_affiliation_strings":["Breast Cancer Center, Oncology Institute, Chaim Sheba Medical Center, 52621, Tel-Hashomer, Israel","Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Breast Cancer Center, Oncology Institute, Chaim Sheba Medical Center, 52621, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001150119","display_name":"Amihood Singer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802540905","display_name":"Israel Ministry of Health","ror":"https://ror.org/016n0q862","country_code":"IL","type":"government","lineage":["https://openalex.org/I2802540905"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Amihood Singer","raw_affiliation_strings":["Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel","institution_ids":["https://openalex.org/I2802540905"]}]},{"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, 52621, 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, 52621, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011025580","display_name":"Iris Netzer","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":"Iris Netzer","raw_affiliation_strings":["Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621, 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, 52621, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084849604","display_name":"Shelley Zalmanoviz","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":"Shelley Zalmanoviz","raw_affiliation_strings":["Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621, 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, 52621, Tel-Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"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":true,"raw_author_name":"Eitan Friedman","raw_affiliation_strings":["Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. eitan.friedman@sheba.health.gov.il","Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Tel-Hashomer, Israel. eitan.friedman@sheba.health.gov.il","Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. eitan.friedman@sheba.health.gov.il","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, 52621, Tel-Hashomer, Israel. eitan.friedman@sheba.health.gov.il","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5031247002"],"corresponding_institution_ids":["https://openalex.org/I16391192","https://openalex.org/I2799810450"],"apc_list":{"value":3760,"currency":"USD","value_usd":3760},"apc_paid":null,"fwci":0.7509,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.69004173,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"176","issue":"1","first_page":"165","last_page":"170"},"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/breast-cancer","display_name":"breast cancer","score":0.718999981880188},{"id":"https://openalex.org/keywords/multigene-panel-testing","display_name":"multigene panel testing","score":0.9520000219345093},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.7490000128746033},{"id":"https://openalex.org/keywords/brcapro","display_name":"BRCAPRO","score":0.9869999885559082},{"id":"https://openalex.org/keywords/chek2-mutation","display_name":"CHEK2 mutation","score":0.9269999861717224},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.5299999713897705},{"id":"https://openalex.org/keywords/ashkenazi-jews","display_name":"Ashkenazi Jews","score":0.7139999866485596},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.6349999904632568},{"id":"https://openalex.org/keywords/rad51d","display_name":"RAD51D","score":0.7179999947547913},{"id":"https://openalex.org/keywords/msh6","display_name":"MSH6","score":0.9279999732971191},{"id":"https://openalex.org/keywords/bap1","display_name":"BAP1","score":0.6449999809265137},{"id":"https://openalex.org/keywords/ret","display_name":"RET","score":0.3440000116825104},{"id":"https://openalex.org/keywords/atm","display_name":"ATM","score":0.5640000104904175},{"id":"https://openalex.org/keywords/tp53","display_name":"TP53","score":0.7680000066757202},{"id":"https://openalex.org/keywords/niobium-nitride","display_name":"niobium nitride","score":0.9110000133514404}],"concepts":[{"id":"https://openalex.org/C2776071976","wikidata":"https://www.wikidata.org/wiki/Q14912280","display_name":"CHEK2","level":5,"score":0.8139033317565918},{"id":"https://openalex.org/C2776674815","wikidata":"https://www.wikidata.org/wiki/Q14911717","display_name":"MSH6","level":5,"score":0.68846595287323},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5659838318824768},{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.5343358516693115},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.500298261642456},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.48274725675582886},{"id":"https://openalex.org/C37846818","wikidata":"https://www.wikidata.org/wiki/Q18032813","display_name":"BAP1","level":3,"score":0.46977347135543823},{"id":"https://openalex.org/C2780194787","wikidata":"https://www.wikidata.org/wiki/Q4836333","display_name":"BRCA mutation","level":4,"score":0.45607852935791016},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4221298098564148},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.410757452249527},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38997095823287964},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.36957502365112305},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35716038942337036},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.2809586226940155},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2604556083679199}],"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":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014408","descriptor_name":"Biomarkers, Tumor","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":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024522","descriptor_name":"Genes, BRCA2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10549-019-05228-6","doi":"https://doi.org/10.1007/s10549-019-05228-6","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10549-019-05228-6","pdf_url":null,"source":{"id":"https://openalex.org/S142211178","display_name":"Breast Cancer Research and Treatment","issn_l":"0167-6806","issn":["0167-6806","1573-7217"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Breast Cancer Research and Treatment","raw_type":"journal-article"},{"id":"pmid:30980208","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30980208","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":"Breast cancer research and treatment","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.6299999952316284,"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":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1605229390","https://openalex.org/W1926715094","https://openalex.org/W1996869778","https://openalex.org/W2005351661","https://openalex.org/W2011442758","https://openalex.org/W2057750876","https://openalex.org/W2080103464","https://openalex.org/W2093883839","https://openalex.org/W2098433299","https://openalex.org/W2115343186","https://openalex.org/W2116759897","https://openalex.org/W2143730928","https://openalex.org/W2161697947","https://openalex.org/W2199370267","https://openalex.org/W2204191358","https://openalex.org/W2235405584","https://openalex.org/W2298876126","https://openalex.org/W2560753239","https://openalex.org/W2579423964","https://openalex.org/W2609963726","https://openalex.org/W2614364607","https://openalex.org/W2738002284","https://openalex.org/W2767129883","https://openalex.org/W2787869143","https://openalex.org/W2884812870","https://openalex.org/W2952777088","https://openalex.org/W4210962723"],"related_works":["https://openalex.org/W2999102594","https://openalex.org/W2885168265","https://openalex.org/W2884812870","https://openalex.org/W2902120307","https://openalex.org/W2102376601","https://openalex.org/W2613675764","https://openalex.org/W2939196113","https://openalex.org/W2767129883","https://openalex.org/W4221042299","https://openalex.org/W2464549210"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2019-04-25T00:00:00"}
