{"id":"https://openalex.org/W2107374121","doi":"https://doi.org/10.1136/jmedgenet-2012-101191","title":"Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1","display_name":"Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1","publication_year":2012,"publication_date":"2012-10-01","ids":{"openalex":"https://openalex.org/W2107374121","doi":"https://doi.org/10.1136/jmedgenet-2012-101191","mag":"2107374121","pmid":"https://pubmed.ncbi.nlm.nih.gov/23054243"},"language":"en","primary_location":{"id":"doi:10.1136/jmedgenet-2012-101191","doi":"https://doi.org/10.1136/jmedgenet-2012-101191","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jmedgenet-2012-101191","pdf_url":null,"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":"green","oa_url":"http://hdl.handle.net/1765/67144","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5062462121","display_name":"Florentine Hilbers","orcid":"https://orcid.org/0000-0002-6764-3102","observed_orcids":["https://orcid.org/0000-0002-6764-3102"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Florentine S Hilbers","raw_affiliation_strings":["Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands","Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden 2333 ZA, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]},{"raw_affiliation_string":"Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden 2333 ZA, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006191861","display_name":"Juul Wijnen","orcid":"https://orcid.org/0000-0003-2805-6922","observed_orcids":["https://orcid.org/0000-0003-2805-6922"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Juul T Wijnen","raw_affiliation_strings":["Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands","Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]},{"raw_affiliation_string":"Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014697573","display_name":"Nicoline Hoogerbrugge","orcid":"https://orcid.org/0000-0003-2393-8141","observed_orcids":["https://orcid.org/0000-0003-2393-8141"]},"institutions":[{"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"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Nicoline Hoogerbrugge","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108084987","display_name":"Jan C. Oosterwijk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334415907","display_name":"University Medical Center Groningen","ror":"https://ror.org/03cv38k47","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I1334415907"]},{"id":"https://openalex.org/I169381384","display_name":"University of Groningen","ror":"https://ror.org/012p63287","country_code":"NL","type":"education","lineage":["https://openalex.org/I169381384"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jan C Oosterwijk","raw_affiliation_strings":["Department of Genetics, University Medical Center, University of Groningen, Groningen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University Medical Center, University of Groningen, Groningen, The Netherlands","institution_ids":["https://openalex.org/I1334415907","https://openalex.org/I169381384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077700231","display_name":"Margriet J Collee","orcid":"https://orcid.org/0000-0002-9272-9346","observed_orcids":["https://orcid.org/0000-0002-9272-9346"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Margriet J Collee","raw_affiliation_strings":["Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106498542","display_name":"Paolo Peterlongo","orcid":"https://orcid.org/0000-0001-6951-6855","observed_orcids":["https://orcid.org/0000-0001-6951-6855"]},"institutions":[{"id":"https://openalex.org/I4210114103","display_name":"IFOM","ror":"https://ror.org/02hcsa680","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210114103"]},{"id":"https://openalex.org/I4210156707","display_name":"Fondazione IRCCS Istituto Nazionale dei Tumori","ror":"https://ror.org/05dwj7825","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210156707"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Paolo Peterlongo","raw_affiliation_strings":["Fondazione Istituto FIRC di Oncologia Molecolare (IFOM), Milan, Italy","Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fondazione Istituto FIRC di Oncologia Molecolare (IFOM), Milan, Italy","institution_ids":["https://openalex.org/I4210114103"]},{"raw_affiliation_string":"Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy","institution_ids":["https://openalex.org/I4210156707"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106526108","display_name":"Paolo Radice","orcid":"https://orcid.org/0000-0001-6298-4111","observed_orcids":["https://orcid.org/0000-0001-6298-4111"]},"institutions":[{"id":"https://openalex.org/I4210114103","display_name":"IFOM","ror":"https://ror.org/02hcsa680","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210114103"]},{"id":"https://openalex.org/I4210156707","display_name":"Fondazione IRCCS Istituto Nazionale dei Tumori","ror":"https://ror.org/05dwj7825","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210156707"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Paolo Radice","raw_affiliation_strings":["Fondazione Istituto FIRC di Oncologia Molecolare (IFOM), Milan, Italy","Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fondazione Istituto FIRC di Oncologia Molecolare (IFOM), Milan, Italy","institution_ids":["https://openalex.org/I4210114103"]},{"raw_affiliation_string":"Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy","institution_ids":["https://openalex.org/I4210156707"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035470784","display_name":"Siranoush Manoukian","orcid":"https://orcid.org/0000-0002-6034-7562","observed_orcids":["https://orcid.org/0000-0002-6034-7562"]},"institutions":[{"id":"https://openalex.org/I4210156707","display_name":"Fondazione IRCCS Istituto Nazionale dei Tumori","ror":"https://ror.org/05dwj7825","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I4210156707"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Siranoush Manoukian","raw_affiliation_strings":["Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy","institution_ids":["https://openalex.org/I4210156707"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046869628","display_name":"Ir\u00e8ne Feroce","orcid":"https://orcid.org/0000-0001-9312-2020","observed_orcids":["https://orcid.org/0000-0001-9312-2020"]},"institutions":[{"id":"https://openalex.org/I6141010","display_name":"European Institute of Oncology","ror":"https://ror.org/02vr0ne26","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126","https://openalex.org/I6141010"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Irene Feroce","raw_affiliation_strings":["Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy","institution_ids":["https://openalex.org/I6141010"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084787228","display_name":"F Capra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210114103","display_name":"IFOM","ror":"https://ror.org/02hcsa680","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210114103"]},{"id":"https://openalex.org/I4405255012","display_name":"Cogentech S.R.L. Societ\u00e0 Benefit a Socio Unico soggetta all\u2019attivit\u00e0 di direzione e coordinamento di IFOM - Istituto Fondazione di Oncologia Molecolare ETS (Italy)","ror":"https://ror.org/02gmprx88","country_code":"IT","type":"company","lineage":["https://openalex.org/I4210114103","https://openalex.org/I4405255012"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Fabio Capra","raw_affiliation_strings":["Cogentech Cancer Genetic Test Laboratory, Milan, Italy","Fondazione Istituto FIRC di Oncologia Molecolare (IFOM), Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cogentech Cancer Genetic Test Laboratory, Milan, Italy","institution_ids":["https://openalex.org/I4405255012"]},{"raw_affiliation_string":"Fondazione Istituto FIRC di Oncologia Molecolare (IFOM), Milan, Italy","institution_ids":["https://openalex.org/I4210114103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016908886","display_name":"Fergus J. Couch","orcid":"https://orcid.org/0000-0001-9417-9985","observed_orcids":["https://orcid.org/0000-0001-9417-9985"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fergus J Couch","raw_affiliation_strings":["Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084192942","display_name":"Xianshu Wang","orcid":"https://orcid.org/0000-0003-0581-6677","observed_orcids":["https://orcid.org/0000-0003-0581-6677"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xianshu Wang","raw_affiliation_strings":["Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009438429","display_name":"Lucia Guidugli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lucia Guidugli","raw_affiliation_strings":["Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107856065","display_name":"Kenneth Offit","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":"Kenneth Offit","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002167607","display_name":"Sohela Shah","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":"Sohela Shah","raw_affiliation_strings":["Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, USA","institution_ids":["https://openalex.org/I1334819555"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037117618","display_name":"Ian Campbell","orcid":"https://orcid.org/0000-0002-7773-4155","observed_orcids":["https://orcid.org/0000-0002-7773-4155"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Ian G Campbell","raw_affiliation_strings":["Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","Univ Melbourne, University of Melbourne, Sir Peter MacCallum Dept Oncol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I2800555584"]},{"raw_affiliation_string":"Univ Melbourne, University of Melbourne, Sir Peter MacCallum Dept Oncol","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I2800555584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045165367","display_name":"Ella R. Thompson","orcid":"https://orcid.org/0000-0001-5206-5111","observed_orcids":["https://orcid.org/0000-0001-5206-5111"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Ella R Thompson","raw_affiliation_strings":["Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I2800555584"]},{"raw_affiliation_string":"Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I2800555584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014995528","display_name":"Paul Andrew James","orcid":"https://orcid.org/0000-0002-4361-4657","observed_orcids":["https://orcid.org/0000-0002-4361-4657"]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Paul A James","raw_affiliation_strings":["Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I2800555584"]},{"raw_affiliation_string":"Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I2800555584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111848353","display_name":"Alison H. Trainer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Alison H Trainer","raw_affiliation_strings":["Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Familial Cancer Centre, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia","institution_ids":["https://openalex.org/I2800555584"]},{"raw_affiliation_string":"Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia","institution_ids":["https://openalex.org/I165779595","https://openalex.org/I2800555584"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Javier Gracia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210089594","display_name":"Spanish National Cancer Research Centre","ror":"https://ror.org/00bvhmc43","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210089594"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Javier Gracia","raw_affiliation_strings":["Human Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain","institution_ids":["https://openalex.org/I4210089594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052211470","display_name":"Javier J. Benitez","orcid":"https://orcid.org/0000-0002-0923-7202","observed_orcids":["https://orcid.org/0000-0002-0923-7202"]},"institutions":[{"id":"https://openalex.org/I4210089594","display_name":"Spanish National Cancer Research Centre","ror":"https://ror.org/00bvhmc43","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210089594"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Javier Benitez","raw_affiliation_strings":["Human Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain","institution_ids":["https://openalex.org/I4210089594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062739052","display_name":"Christie J. van Asperen","orcid":"https://orcid.org/0000-0002-1436-7650","observed_orcids":["https://orcid.org/0000-0002-1436-7650"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Christi J van Asperen","raw_affiliation_strings":["Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046610742","display_name":"Peter Devilee","orcid":"https://orcid.org/0000-0002-8023-2009","observed_orcids":["https://orcid.org/0000-0002-8023-2009"]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Peter Devilee","raw_affiliation_strings":["Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":14,"corresponding_author_ids":["https://openalex.org/A5062462121"],"corresponding_institution_ids":["https://openalex.org/I2800006345"],"apc_list":null,"apc_paid":null,"fwci":3.835,"has_fulltext":false,"cited_by_count":46,"citation_normalized_percentile":{"value":0.94141561,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"49","issue":"10","first_page":"618","last_page":"620"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.9990000128746033,"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":0.9990000128746033,"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":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/xrcc2","display_name":"XRCC2","score":1.0},{"id":"https://openalex.org/keywords/rare-germline-variants","display_name":"rare germline variants","score":0.9340000152587891},{"id":"https://openalex.org/keywords/breast-cancer-susceptibility","display_name":"breast cancer susceptibility","score":0.984000027179718},{"id":"https://openalex.org/keywords/truncating-variants","display_name":"truncating mutations","score":0.8989999890327454},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8560000061988831},{"id":"https://openalex.org/keywords/double-strand-break-repair","display_name":"DNA double-strand break repair","score":0.7139999866485596},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.3499999940395355}],"concepts":[{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.8330729007720947},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7035623788833618},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5033859610557556},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.49466249346733093},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.44107669591903687},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42498475313186646},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.42409053444862366},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.4240695536136627},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.4145020842552185},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4079715311527252},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3952237665653229},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.38891151547431946},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32273879647254944},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2574597895145416}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":18,"locations":[{"id":"doi:10.1136/jmedgenet-2012-101191","doi":"https://doi.org/10.1136/jmedgenet-2012-101191","is_oa":false,"landing_page_url":"https://doi.org/10.1136/jmedgenet-2012-101191","pdf_url":null,"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":"pmid:23054243","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23054243","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":"Journal Article"},{"id":"pmh:oai:pure.eur.nl:openaire_cris_publications/0b93d8bf-087b-4e59-8b9c-008127f6e7a7","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/0b93d8bf-087b-4e59-8b9c-008127f6e7a7","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hilbers, FS, Wijnen, JT, Hoogerbrugge, N, Oosterwijk, JC, Collee, M, Peterlongo, P, Radice, P, Manoukian, S, Feroce, I, Capra, F, Couch, FJ, Wang, XS, Guidugli, L, Offit, K, Shah, S, Campbell, IG, Thompson, ER, James, PA, Trainer, AH, Gracia, J, Benitez, J, van Asperen, CJ & Devilee, P 2012, 'Rare variants in XRCC2 as breast cancer susceptibility alleles', Journal of Medical Genetics, vol. 49, no. 10, pp. 618-620. https://doi.org/10.1136/jmedgenet-2012-101191","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/0b93d8bf-087b-4e59-8b9c-008127f6e7a7","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/0b93d8bf-087b-4e59-8b9c-008127f6e7a7","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, 49(10), 618 - 620. BMJ Publishing Group","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:repub.eur.nl:67144","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/67144","pdf_url":null,"source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, 49(10), 618 - 620","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:lumc:oai:scholarlypublications.universiteitleiden.nl:item_3015319","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1887/98016","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, 49(10), 618 - 20","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:lumc:oai:scholarlypublications.universiteitleiden.nl:item_3015651","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1887/98573","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, 49(10), 618 - 620","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:alma.31UKB_LEU:9940754182402711","doi":null,"is_oa":false,"landing_page_url":"https://scholarlypublications.universiteitleiden.nl/handle/1887/98573","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, Vol. 49, no. 10, p. 618-620","raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:oai:alma.31UKB_LEU:9940754194902711","doi":null,"is_oa":false,"landing_page_url":"https://scholarlypublications.universiteitleiden.nl/handle/1887/98016","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, Vol. 49, no. 10, p. 618-20","raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:oai:openaccess.leidenuniv.nl:1887/98016","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1887/98016","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"49","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:openaccess.leidenuniv.nl:1887/98573","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1887/98573","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"49","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:pure.rug.nl:openaire_cris_publications/bb6aada8-5412-486a-8de1-e11c7e11d094","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11370/bb6aada8-5412-486a-8de1-e11c7e11d094","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Hilbers, F S, Wijnen, J T, Hoogerbrugge, N, Oosterwijk, J C, Collee, M J, Peterlongo, P, Radice, P, Manoukian, S, Feroce, I, Capra, F, Couch, F J, Wang, X, Guidugli, L, Offit, K, Shah, S, Campbell, I G, Thompson, E R, James, P A, Trainer, A H, Gracia, J, Benitez, J, van Asperen, C J & Devilee, P 2012, 'Rare variants in XRCC2 as breast cancer susceptibility alleles', Journal of Medical Genetics, vol. 49, no. 10, pp. 618-620. https://doi.org/10.1136/jmedgenet-2012-101191","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/109276","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/2066/109276","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:repub.eur.nl:67144","doi":null,"is_oa":true,"landing_page_url":"http://repub.eur.nl/pub/67144","pdf_url":null,"source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics vol. 49 no. 10, pp. 618-620","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:scholarlypublications.universiteitleiden.nl:item_3015319","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/1887/98016","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics","raw_type":"Article / Letter to editor"},{"id":"pmh:oai:scholarlypublications.universiteitleiden.nl:item_3015651","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/1887/98573","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/109276","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/109276","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, 49, 618 - 20","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:rug:oai:pure.rug.nl:publications/bb6aada8-5412-486a-8de1-e11c7e11d094","doi":null,"is_oa":false,"landing_page_url":"https://research.rug.nl/en/publications/bb6aada8-5412-486a-8de1-e11c7e11d094","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"JOURNAL OF MEDICAL GENETICS, 49(10), 618 - 620. BMJ PUBLISHING GROUP","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:eur:oai:repub.eur.nl:67144","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1765/67144","pdf_url":null,"source":{"id":"https://openalex.org/S4377196287","display_name":"RePub (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Medical Genetics, 49(10), 618 - 620","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9789000153541565}],"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":10,"referenced_works":["https://openalex.org/W2010378709","https://openalex.org/W2059145105","https://openalex.org/W2082211636","https://openalex.org/W2087242923","https://openalex.org/W2126282065","https://openalex.org/W2132752562","https://openalex.org/W2147406390","https://openalex.org/W2153927308","https://openalex.org/W2164004777","https://openalex.org/W2170305004"],"related_works":["https://openalex.org/W2970279264","https://openalex.org/W2087242923","https://openalex.org/W2508893482","https://openalex.org/W2408500118","https://openalex.org/W2490681871","https://openalex.org/W2746130831","https://openalex.org/W2742436583","https://openalex.org/W3200490259","https://openalex.org/W4283079528","https://openalex.org/W1544000508"],"abstract_inverted_index":{"BACKGROUND:":[0],"Recently,":[1],"rare":[2],"germline":[3],"variants":[4,32,76,97,114,147],"in":[5,9,49,92,100,125,164],"XRCC2":[6,44,146,165],"were":[7,45,77,98,130],"detected":[8,74,89,99],"non-BRCA1/2":[10,55],"familial":[11,56,102,174],"breast":[12,20,26,57,149,175],"cancer":[13,21,27,58,150],"cases,":[14],"and":[15,40,60,105,135,148],"a":[16,93,153,170],"significant":[17],"association":[18,144],"with":[19,30],"was":[22,90],"reported.":[23],"However,":[24],"the":[25,111],"risk":[28,155],"associated":[29],"these":[31,128],"needs":[33],"further":[34],"evaluation.":[35],"METHODS:":[36],"The":[37,85],"coding":[38],"regions":[39],"exon-intron":[41],"boundaries":[42],"of":[43,53,73,113,173],"scanned":[46],"for":[47],"mutations":[48],"an":[50,143],"international":[51],"cohort":[52],"3548":[54],"cases":[59,103,134],"1435":[61],"healthy":[62,107],"controls":[63,108],"using":[64],"various":[65],"mutation":[66],"scanning":[67],"methods.":[68],"Predictions":[69],"on":[70],"functional":[71],"relevance":[72],"missense":[75],"obtained":[78],"from":[79],"three":[80],"different":[81],"prediction":[82,123],"algorithms.":[83],"RESULTS:":[84],"only":[86],"protein-truncating":[87],"variant":[88],"found":[91],"control.":[94],"Rare":[95],"non-protein-truncating":[96],"20":[101],"(0.6%)":[104],"nine":[106],"(0.6%).":[109],"Although":[110],"number":[112],"predicted":[115],"to":[116,168],"be":[117,161],"damaging":[118],"or":[119],"neutral":[120],"differed":[121],"between":[122,145],"algorithms,":[124],"all":[126],"instances":[127],"categories":[129],"evenly":[131],"represented":[132],"among":[133],"controls.":[136],"CONCLUSIONS:":[137],"Our":[138],"data":[139],"do":[140],"not":[141,160],"confirm":[142],"risk,":[151],"although":[152],"relative":[154],"smaller":[156],"than":[157],"two":[158],"could":[159],"excluded.":[162],"Variants":[163],"are":[166],"unlikely":[167],"explain":[169],"substantial":[171],"proportion":[172],"cancer.":[176]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":7}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
