{"id":"https://openalex.org/W2412268564","doi":"https://doi.org/10.1038/ejhg.2016.57","title":"Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing","display_name":"Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing","publication_year":2016,"publication_date":"2016-06-08","ids":{"openalex":"https://openalex.org/W2412268564","doi":"https://doi.org/10.1038/ejhg.2016.57","mag":"2412268564","pmid":"https://pubmed.ncbi.nlm.nih.gov/27273131"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2016.57","doi":"https://doi.org/10.1038/ejhg.2016.57","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ejhg.2016.57","pdf_url":null,"source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://research.manchester.ac.uk/en/publications/6026d56d-e76d-4f4c-a689-359afc62a0a7","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5067200594","display_name":"Helen Byers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Helen Byers","raw_affiliation_strings":["Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I4210087748"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050261696","display_name":"Yvonne Wallis","orcid":"https://orcid.org/0000-0002-5079-967X","observed_orcids":["https://orcid.org/0000-0002-5079-967X"]},"institutions":[{"id":"https://openalex.org/I4210099987","display_name":"Birmingham Women's Hospital","ror":"https://ror.org/00xe5zs60","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210099987","https://openalex.org/I4210155225"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Yvonne Wallis","raw_affiliation_strings":["West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK","institution_ids":["https://openalex.org/I4210099987"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046674130","display_name":"Elke Maria van Veen","orcid":"https://orcid.org/0000-0001-8618-2332","observed_orcids":["https://orcid.org/0000-0001-8618-2332"]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}],"countries":["GB","NL"],"is_corresponding":false,"raw_author_name":"Elke M van Veen","raw_affiliation_strings":["Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands","Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":"Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I4210087748"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065103918","display_name":"Fiona I. Lalloo","orcid":"https://orcid.org/0000-0002-0612-8377","observed_orcids":["https://orcid.org/0000-0002-0612-8377"]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Fiona Lalloo","raw_affiliation_strings":["Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I4210087748"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055571295","display_name":"Kim Reay","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099987","display_name":"Birmingham Women's Hospital","ror":"https://ror.org/00xe5zs60","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210099987","https://openalex.org/I4210155225"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kim Reay","raw_affiliation_strings":["West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK","institution_ids":["https://openalex.org/I4210099987"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016531852","display_name":"Philip Smith","orcid":"https://orcid.org/0000-0002-6369-3719","observed_orcids":["https://orcid.org/0000-0002-6369-3719"]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Philip Smith","raw_affiliation_strings":["Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I4210087748"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066680610","display_name":"Andrew J. Wallace","orcid":"https://orcid.org/0000-0002-9603-8892","observed_orcids":["https://orcid.org/0000-0002-9603-8892"]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Andrew J Wallace","raw_affiliation_strings":["Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK",", University of Manchester, Manchester, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":", University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051212071","display_name":"Naomi L. Bowers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Naomi Bowers","raw_affiliation_strings":["Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust,","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I4210087748"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074121579","display_name":"William G. Newman","orcid":"https://orcid.org/0000-0002-6382-4678","observed_orcids":["https://orcid.org/0000-0002-6382-4678","https://orcid.org/0000-0002-5712-9265"]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"id":"https://openalex.org/I4392738304","display_name":"Cancer Research UK Manchester Centre","ror":"https://ror.org/033svsm10","country_code":null,"type":"facility","lineage":["https://openalex.org/I2801316944","https://openalex.org/I28407311","https://openalex.org/I4210133995","https://openalex.org/I4392738304"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"William G Newman","raw_affiliation_strings":["Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester, UK",", University of Manchester, Manchester, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":"Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I28407311","https://openalex.org/I4392738304"]},{"raw_affiliation_string":", University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087003938","display_name":"D. Gareth Evans","orcid":"https://orcid.org/0000-0002-8482-5784","observed_orcids":["https://orcid.org/0000-0002-8482-5784"]},"institutions":[{"id":"https://openalex.org/I2799725268","display_name":"Manchester Academic Health Science Centre","ror":"https://ror.org/04rrkhs81","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799725268"]},{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210087748","display_name":"St Mary's Hospital","ror":"https://ror.org/001x4vz59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800602287","https://openalex.org/I4210087748","https://openalex.org/I4210092852"]},{"id":"https://openalex.org/I4392738304","display_name":"Cancer Research UK Manchester Centre","ror":"https://ror.org/033svsm10","country_code":null,"type":"facility","lineage":["https://openalex.org/I2801316944","https://openalex.org/I28407311","https://openalex.org/I4210133995","https://openalex.org/I4392738304"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"D Gareth Evans","raw_affiliation_strings":["Genesis Breast Cancer Prevention Centre, University Hospital of South Manchester NHS Trust, Manchester, UK","Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester, UK",", University of Manchester, Manchester, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genesis Breast Cancer Prevention Centre, University Hospital of South Manchester NHS Trust, Manchester, UK","institution_ids":[]},{"raw_affiliation_string":"Genomic Medicine, Institute of Human Development, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748"]},{"raw_affiliation_string":"Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I28407311","https://openalex.org/I4392738304"]},{"raw_affiliation_string":", University of Manchester, Manchester, UK","institution_ids":["https://openalex.org/I28407311"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5087003938"],"corresponding_institution_ids":["https://openalex.org/I2799725268","https://openalex.org/I28407311","https://openalex.org/I4210087748","https://openalex.org/I4392738304"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":3.1778,"has_fulltext":true,"cited_by_count":27,"citation_normalized_percentile":{"value":0.91480029,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"24","issue":"11","first_page":"1591","last_page":"1597"},"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/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"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.9760000109672546},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":1.0},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.8109999895095825},{"id":"https://openalex.org/keywords/male-breast-cancer","display_name":"male breast cancer","score":0.9559999704360962},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.718999981880188},{"id":"https://openalex.org/keywords/rna-sequencing","display_name":"RNA sequencing","score":0.4970000088214874},{"id":"https://openalex.org/keywords/diagnostic-sensitivity","display_name":"diagnostic sensitivity","score":0.7590000033378601},{"id":"https://openalex.org/keywords/neurofibromatosis-type-1","display_name":"neurofibromatosis type 1","score":0.6330000162124634},{"id":"https://openalex.org/keywords/msh2","display_name":"MSH2","score":0.9980000257492065},{"id":"https://openalex.org/keywords/rad51d","display_name":"RAD51D","score":0.8849999904632568},{"id":"https://openalex.org/keywords/atm","display_name":"ATM","score":0.9470000267028809},{"id":"https://openalex.org/keywords/chek2","display_name":"CHEK2","score":0.9750000238418579},{"id":"https://openalex.org/keywords/copy-number-analysis","display_name":"copy number analysis","score":0.6039999723434448}],"concepts":[{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.6566116213798523},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6276920437812805},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5482537746429443},{"id":"https://openalex.org/C2780427987","wikidata":"https://www.wikidata.org/wiki/Q172341","display_name":"Ovarian cancer","level":3,"score":0.5450097322463989},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5052903294563293},{"id":"https://openalex.org/C2776071976","wikidata":"https://www.wikidata.org/wiki/Q14912280","display_name":"CHEK2","level":5,"score":0.44243040680885315},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.38301077485084534},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.37855422496795654},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.37095391750335693},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.365686297416687},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19734308123588562},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.1802385151386261}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D000368","descriptor_name":"Aged","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":"D000368","descriptor_name":"Aged","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":"D005260","descriptor_name":"Female","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"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":"D008875","descriptor_name":"Middle Aged","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","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":"D010051","descriptor_name":"Ovarian Neoplasms","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012680","descriptor_name":"Sensitivity and Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000592","qualifier_name":"standards","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018567","descriptor_name":"Breast Neoplasms, Male","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019313","descriptor_name":"BRCA1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019313","descriptor_name":"BRCA1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019313","descriptor_name":"BRCA1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019313","descriptor_name":"BRCA1 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024682","descriptor_name":"BRCA2 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024682","descriptor_name":"BRCA2 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024682","descriptor_name":"BRCA2 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024682","descriptor_name":"BRCA2 Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051135","descriptor_name":"Rad51 Recombinase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051135","descriptor_name":"Rad51 Recombinase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051135","descriptor_name":"Rad51 Recombinase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051135","descriptor_name":"Rad51 Recombinase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064007","descriptor_name":"Ataxia Telangiectasia Mutated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064447","descriptor_name":"Checkpoint Kinase 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064447","descriptor_name":"Checkpoint Kinase 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064447","descriptor_name":"Checkpoint Kinase 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D064447","descriptor_name":"Checkpoint Kinase 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1038/ejhg.2016.57","doi":"https://doi.org/10.1038/ejhg.2016.57","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ejhg.2016.57","pdf_url":null,"source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:27273131","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27273131","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":"European journal of human genetics : EJHG","raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:openaire/6026d56d-e76d-4f4c-a689-359afc62a0a7","doi":null,"is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/6026d56d-e76d-4f4c-a689-359afc62a0a7","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Byers, H, Yvonne Wallis, Van Veen, E, Lalloo, F, Kim Reay, Smith, P, Wallace, A J, Bowers, N, Newman, W & Evans, D 2016, 'Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing', European Journal of Human Genetics, vol. 24, no. 11, pp. 1591-1597. https://doi.org/10.1038/ejhg.2016.57","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5110056","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5110056","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pure.atira.dk:openaire/6026d56d-e76d-4f4c-a689-359afc62a0a7","doi":null,"is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/6026d56d-e76d-4f4c-a689-359afc62a0a7","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Byers, H, Yvonne Wallis, Van Veen, E, Lalloo, F, Kim Reay, Smith, P, Wallace, A J, Bowers, N, Newman, W & Evans, D 2016, 'Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing', European Journal of Human Genetics, vol. 24, no. 11, pp. 1591-1597. https://doi.org/10.1038/ejhg.2016.57","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.8100000023841858,"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/G577523361","display_name":"NIHR Senior Investigator Award","funder_award_id":"NF-SI-0513-10076","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"}],"funders":[{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1871202334","https://openalex.org/W1969946724","https://openalex.org/W1987186315","https://openalex.org/W2022418360","https://openalex.org/W2032605043","https://openalex.org/W2041205258","https://openalex.org/W2056781336","https://openalex.org/W2070680676","https://openalex.org/W2084985708","https://openalex.org/W2095783009","https://openalex.org/W2103970959","https://openalex.org/W2135195813","https://openalex.org/W2135525536","https://openalex.org/W2143714914","https://openalex.org/W2162148675","https://openalex.org/W2165023188","https://openalex.org/W2194014097","https://openalex.org/W2273762313","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W4221115387","https://openalex.org/W4379280648","https://openalex.org/W3156039908","https://openalex.org/W1935029012","https://openalex.org/W4241836633","https://openalex.org/W1998240371","https://openalex.org/W2263929045","https://openalex.org/W2127765486","https://openalex.org/W4220824317","https://openalex.org/W2900990652"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"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":5},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":2}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}