{"id":"https://openalex.org/W2980293333","doi":"https://doi.org/10.3390/cancers11101548","title":"Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer","display_name":"Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer","publication_year":2019,"publication_date":"2019-10-13","ids":{"openalex":"https://openalex.org/W2980293333","doi":"https://doi.org/10.3390/cancers11101548","mag":"2980293333","pmid":"https://pubmed.ncbi.nlm.nih.gov/31614901","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6826355"},"language":"en","primary_location":{"id":"doi:10.3390/cancers11101548","doi":"https://doi.org/10.3390/cancers11101548","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/cancers11101548","pdf_url":"https://www.mdpi.com/2072-6694/11/10/1548/pdf","source":{"id":"https://openalex.org/S168415115","display_name":"Cancers","issn_l":"2072-6694","issn":["2072-6694"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancers","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/2072-6694/11/10/1548/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050334362","display_name":"Wojciech Klu\u017aniak","orcid":"https://orcid.org/0000-0002-0782-4905","observed_orcids":["https://orcid.org/0000-0002-0782-4905"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Wojciech Klu\u017aniak","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074091868","display_name":"Dominika Woko\u0142orczyk","orcid":"https://orcid.org/0000-0003-0191-1570","observed_orcids":["https://orcid.org/0000-0003-0191-1570"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Dominika Woko\u0142orczyk","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057848494","display_name":"Bogna Rusak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Bogna Rusak","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026033317","display_name":"Tomasz Huzarski","orcid":"https://orcid.org/0000-0003-3857-4854","observed_orcids":["https://orcid.org/0000-0003-3857-4854"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I46305939","display_name":"University of Zielona G\u00f3ra","ror":"https://ror.org/04fzm7v55","country_code":"PL","type":"education","lineage":["https://openalex.org/I46305939"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Tomasz Huzarski","raw_affiliation_strings":["Department of Clinical Genetics and Pathology, University of Zielona G\u00f3ra, 65-046 Zielona G\u00f3ra, Poland","International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics and Pathology, University of Zielona G\u00f3ra, 65-046 Zielona G\u00f3ra, Poland","institution_ids":["https://openalex.org/I46305939"]},{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067731987","display_name":"Aniruddh Kashyap","orcid":"https://orcid.org/0000-0001-7374-7912","observed_orcids":["https://orcid.org/0000-0001-7374-7912"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Aniruddh Kashyap","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088246682","display_name":"Klaudia Stempa","orcid":"https://orcid.org/0000-0002-1909-9333","observed_orcids":["https://orcid.org/0000-0002-1909-9333"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Klaudia Stempa","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":"https://orcid.org/0000-0002-1909-9333","affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065808658","display_name":"Helena Rudnicka","orcid":"https://orcid.org/0000-0001-7235-7584","observed_orcids":["https://orcid.org/0000-0001-7235-7584"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Helena Rudnicka","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056748204","display_name":"Anna Jakubowska","orcid":"https://orcid.org/0000-0002-5650-0501","observed_orcids":["https://orcid.org/0000-0002-5650-0501"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Anna Jakubowska","raw_affiliation_strings":["Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":"https://orcid.org/0000-0002-5650-0501","affiliations":[{"raw_affiliation_string":"Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I79833322"]},{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030102411","display_name":"Marek Szwiec","orcid":"https://orcid.org/0000-0001-6981-6356","observed_orcids":["https://orcid.org/0000-0001-6981-6356"]},"institutions":[{"id":"https://openalex.org/I46305939","display_name":"University of Zielona G\u00f3ra","ror":"https://ror.org/04fzm7v55","country_code":"PL","type":"education","lineage":["https://openalex.org/I46305939"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Marek Szwiec","raw_affiliation_strings":["Department of Surgery and Oncology, University of Zielona G\u00f3ra, 65-046 Zielona G\u00f3ra, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery and Oncology, University of Zielona G\u00f3ra, 65-046 Zielona G\u00f3ra, Poland","institution_ids":["https://openalex.org/I46305939"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035476507","display_name":"Sylwia Feszak","orcid":"https://orcid.org/0000-0003-2966-7565","observed_orcids":["https://orcid.org/0000-0003-2966-7565"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Sylwia Morawska","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031458465","display_name":"Katarzyna Gliniewicz","orcid":"https://orcid.org/0000-0003-3110-0373","observed_orcids":["https://orcid.org/0000-0003-3110-0373"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Katarzyna Gliniewicz","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066922393","display_name":"Karina Mordak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Karina Mordak","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055053130","display_name":"Ma\u0142gorzata Stawicka","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I46305939","display_name":"University of Zielona G\u00f3ra","ror":"https://ror.org/04fzm7v55","country_code":"PL","type":"education","lineage":["https://openalex.org/I46305939"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Ma\u0142gorzata Stawicka","raw_affiliation_strings":["Department of Clinical Genetics and Pathology, University of Zielona G\u00f3ra, 65-046 Zielona G\u00f3ra, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics and Pathology, University of Zielona G\u00f3ra, 65-046 Zielona G\u00f3ra, Poland","institution_ids":["https://openalex.org/I46305939"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064187635","display_name":"Joanna Jarkiewicz\u2010Tretyn","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Joanna Jarkiewicz-Tretyn","raw_affiliation_strings":["Cancer Genetics Laboratory, 87-100 Toru\u0144, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Laboratory, 87-100 Toru\u0144, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007443437","display_name":"Magdalena Cechowska","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Magdalena Cechowska","raw_affiliation_strings":["Cancer Genetics Laboratory, 87-100 Toru\u0144, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Genetics Laboratory, 87-100 Toru\u0144, Poland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000443191","display_name":"Pawe\u0142 Domaga\u0142a","orcid":"https://orcid.org/0000-0002-7810-5289","observed_orcids":["https://orcid.org/0000-0002-7810-5289"]},"institutions":[{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Pawe\u0142 Domaga\u0142a","raw_affiliation_strings":["Department of Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081536138","display_name":"Tadeusz D\u0119bniak","orcid":"https://orcid.org/0000-0002-3506-8932","observed_orcids":["https://orcid.org/0000-0002-3506-8932"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Tadeusz D\u0119bniak","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056728669","display_name":"Marcin Rados\u0142aw Lener","orcid":"https://orcid.org/0000-0003-0747-4850","observed_orcids":["https://orcid.org/0000-0003-0747-4850"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Marcin Lener","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090925673","display_name":"Jacek Gronwald","orcid":"https://orcid.org/0000-0002-3643-2871","observed_orcids":["https://orcid.org/0000-0002-3643-2871"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Jacek Gronwald","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023115923","display_name":"Jan Lubi\u0144ski","orcid":"https://orcid.org/0000-0003-2931-3003","observed_orcids":["https://orcid.org/0000-0003-2931-3003"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Jan Lubi\u0144ski","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088516335","display_name":"Steven Alexander Narod","orcid":"https://orcid.org/0000-0001-5798-0626","observed_orcids":["https://orcid.org/0000-0001-5798-0626"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801816099","display_name":"Women's College Hospital","ror":"https://ror.org/03cw63y62","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801816099"]},{"id":"https://openalex.org/I4405287337","display_name":"Women\u2019s College Hospital Research and Innovation Institute","ror":"https://ror.org/04wx8hm39","country_code":"CA","type":"facility","lineage":["https://openalex.org/I2801816099","https://openalex.org/I4405287337"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Steven A. Narod","raw_affiliation_strings":["Dalla Lana School of Public Health, University of Toronto, Toronto, M5T 3M7 ON, Canada","Women\u2019s College Research Institute, Women\u2019s College Hospital, Toronto, M5S 1B2 ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dalla Lana School of Public Health, University of Toronto, Toronto, M5T 3M7 ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Women\u2019s College Research Institute, Women\u2019s College Hospital, Toronto, M5S 1B2 ON, Canada","institution_ids":["https://openalex.org/I2801816099","https://openalex.org/I4405287337"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054934487","display_name":"Mohammad Reza Akbari","orcid":"https://orcid.org/0000-0002-8851-3614","observed_orcids":["https://orcid.org/0000-0002-8851-3614"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801816099","display_name":"Women's College Hospital","ror":"https://ror.org/03cw63y62","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801816099"]},{"id":"https://openalex.org/I4405287337","display_name":"Women\u2019s College Hospital Research and Innovation Institute","ror":"https://ror.org/04wx8hm39","country_code":"CA","type":"facility","lineage":["https://openalex.org/I2801816099","https://openalex.org/I4405287337"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Mohammad R. Akbari","raw_affiliation_strings":["Dalla Lana School of Public Health, University of Toronto, Toronto, M5T 3M7 ON, Canada","Women\u2019s College Research Institute, Women\u2019s College Hospital, Toronto, M5S 1B2 ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dalla Lana School of Public Health, University of Toronto, Toronto, M5T 3M7 ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Women\u2019s College Research Institute, Women\u2019s College Hospital, Toronto, M5S 1B2 ON, Canada","institution_ids":["https://openalex.org/I2801816099","https://openalex.org/I4405287337"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086464692","display_name":"Cezary Cybulski","orcid":"https://orcid.org/0000-0002-2819-3057","observed_orcids":["https://orcid.org/0000-0002-2819-3057"]},"institutions":[{"id":"https://openalex.org/I4210160155","display_name":"International Hereditary Cancer Center","ror":"https://ror.org/04qfjb814","country_code":"PL","type":"healthcare","lineage":["https://openalex.org/I4210160155"]},{"id":"https://openalex.org/I79833322","display_name":"Pomeranian Medical University","ror":"https://ror.org/01v1rak05","country_code":"PL","type":"education","lineage":["https://openalex.org/I79833322"]}],"countries":["PL"],"is_corresponding":true,"raw_author_name":"Cezary Cybulski","raw_affiliation_strings":["International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland"],"raw_orcid":"https://orcid.org/0000-0002-2819-3057","affiliations":[{"raw_affiliation_string":"International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland","institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5086464692"],"corresponding_institution_ids":["https://openalex.org/I4210160155","https://openalex.org/I79833322"],"apc_list":{"value":1800,"currency":"CHF","value_usd":1824},"apc_paid":{"value":1800,"currency":"CHF","value_usd":1824},"fwci":1.2757,"has_fulltext":true,"cited_by_count":27,"citation_normalized_percentile":{"value":0.77241435,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":98},"biblio":{"volume":"11","issue":"10","first_page":"1548","last_page":"1548"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.9976000189781189,"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":0.9976000189781189,"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":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11134","display_name":"Breast Lesions and Carcinomas","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/blm-gene","display_name":"BLM gene","score":0.953000009059906},{"id":"https://openalex.org/keywords/bloom-syndrome","display_name":"Bloom syndrome","score":0.8090000152587891},{"id":"https://openalex.org/keywords/breast-cancer","display_name":"breast cancer","score":0.6840000152587891},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.7250000238418579},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.8679999709129333},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.7429999709129333},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.6430000066757202},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":0.734000027179718},{"id":"https://openalex.org/keywords/family-history-of-breast-cancer","display_name":"family history of breast cancer","score":0.6549999713897705},{"id":"https://openalex.org/keywords/polish-families","display_name":"Polish families","score":0.47600001096725464}],"concepts":[{"id":"https://openalex.org/C530470458","wikidata":"https://www.wikidata.org/wiki/Q128581","display_name":"Breast cancer","level":3,"score":0.7339752316474915},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.536361038684845},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.37962114810943604},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.36921894550323486},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3381200432777405},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3285607695579529},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3180301785469055}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.3390/cancers11101548","doi":"https://doi.org/10.3390/cancers11101548","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/cancers11101548","pdf_url":"https://www.mdpi.com/2072-6694/11/10/1548/pdf","source":{"id":"https://openalex.org/S168415115","display_name":"Cancers","issn_l":"2072-6694","issn":["2072-6694"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancers","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5817569","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6826355","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:31614901","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31614901","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":"Cancers","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6826355","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6826355/","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancers (Basel)","raw_type":"Text"},{"id":"pmh:oai:utoronto.scholaris.ca:1807/96934","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1807/96934","pdf_url":"https://utoronto.scholaris.ca/bitstreams/c3568758-98b0-4877-b18f-ead871391f42/download","source":{"id":"https://openalex.org/S4306400261","display_name":"TSpace (University of Toronto)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I185261750","host_organization_name":"University of Toronto","host_organization_lineage":["https://openalex.org/I185261750"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:8afa4686c1dc4866947cf07d96e0d504","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/8afa4686c1dc4866947cf07d96e0d504","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Cancers, Vol 11, Iss 10, p 1548 (2019)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/cancers11101548","doi":"https://doi.org/10.3390/cancers11101548","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3390/cancers11101548","pdf_url":"https://www.mdpi.com/2072-6694/11/10/1548/pdf","source":{"id":"https://openalex.org/S168415115","display_name":"Cancers","issn_l":"2072-6694","issn":["2072-6694"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancers","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9922999739646912,"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/G2557301639","display_name":null,"funder_award_id":"2015/17/B/NZ5/02543","funder_id":"https://openalex.org/F4320322650","funder_display_name":"Narodowym Centrum Nauki"},{"id":"https://openalex.org/G4828066230","display_name":null,"funder_award_id":"2015/17/B/NZ5/02543","funder_id":"https://openalex.org/F4320322511","funder_display_name":"Narodowe Centrum Nauki"}],"funders":[{"id":"https://openalex.org/F4320322511","display_name":"Narodowe Centrum Nauki","ror":"https://ror.org/03ha2q922"},{"id":"https://openalex.org/F4320322650","display_name":"Narodowym Centrum Nauki","ror":"https://ror.org/03ha2q922"},{"id":"https://openalex.org/F4320325368","display_name":"Pomorski Uniwersytet Medyczny W Szczecinie","ror":"https://ror.org/01v1rak05"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2980293333.pdf","grobid_xml":"https://content.openalex.org/works/W2980293333.grobid-xml"},"referenced_works_count":35,"referenced_works":["https://openalex.org/W1485534662","https://openalex.org/W1931019822","https://openalex.org/W1947543498","https://openalex.org/W1966950471","https://openalex.org/W1968676497","https://openalex.org/W1970898019","https://openalex.org/W1995925361","https://openalex.org/W2013938614","https://openalex.org/W2045457378","https://openalex.org/W2050755507","https://openalex.org/W2055960628","https://openalex.org/W2069732046","https://openalex.org/W2077606270","https://openalex.org/W2077858999","https://openalex.org/W2082447947","https://openalex.org/W2082460932","https://openalex.org/W2086691265","https://openalex.org/W2091624569","https://openalex.org/W2102574193","https://openalex.org/W2105311426","https://openalex.org/W2120912874","https://openalex.org/W2121027597","https://openalex.org/W2129298960","https://openalex.org/W2134693307","https://openalex.org/W2135125566","https://openalex.org/W2136849872","https://openalex.org/W2141122938","https://openalex.org/W2167690210","https://openalex.org/W2184018648","https://openalex.org/W2221804620","https://openalex.org/W2578626215","https://openalex.org/W2748606465","https://openalex.org/W2884121130","https://openalex.org/W2954637450","https://openalex.org/W6640440203"],"related_works":["https://openalex.org/W2135125566","https://openalex.org/W1995925361","https://openalex.org/W7162511827","https://openalex.org/W4402315396","https://openalex.org/W2548136543","https://openalex.org/W1947543498","https://openalex.org/W2396301916","https://openalex.org/W1965861571","https://openalex.org/W2028257626","https://openalex.org/W4366761882"],"abstract_inverted_index":{"Bloom":[0,173],"Syndrome":[1],"is":[2,15,169],"a":[3,9,30,48,57,166,170,184],"rare":[4],"recessive":[5],"disease":[6],"which":[7,164],"includes":[8],"susceptibility":[10,202],"to":[11,35,155,178,180],"various":[12],"cancers.":[13],"It":[14,90],"caused":[16],"by":[17],"homozygous":[18,167],"mutations":[19],"of":[20,29,52,64,95,103,114,127,151,157,172,194],"the":[21,65,87,118,128,138,149,192],"BLM":[22,31,40,119,130,139,160,195],"gene.":[23,203],"To":[24],"investigate":[25],"whether":[26],"heterozygous":[27,185],"carriers":[28,121,153],"mutation":[32,59,120,140,152,162],"are":[33],"predisposed":[34],"breast":[36,53,67,79,115,181,200],"cancer,":[37],"we":[38,75],"sequenced":[39],"in":[41,62,93,101,117,135,148,165,183],"617":[42,66],"patients":[43,69],"from":[44,137],"Polish":[45],"families":[46],"with":[47],"strong":[49],"family":[50],"history":[51],"cancer.":[54],"We":[55],"detected":[56,134],"founder":[58,88,161],"(c.1642C>T,":[60],"p.Gln548Ter)":[61],"3":[63],"cancer":[68,80,143,182,201],"(0.49%)":[70],"who":[71],"were":[72,124],"sequenced.":[73],"Then,":[74],"genotyped":[76],"14,804":[77,96],"unselected":[78,98],"cases":[81,99],"and":[82,100,122],"4698":[83,104],"cancer-free":[84],"women":[85],"for":[86],"mutation.":[89],"was":[91,132,145],"identified":[92],"82":[94],"(0.55%)":[97,105],"26":[102],"controls":[106],"(OR":[107],"=":[108],"1.0;":[109],"95%CI":[110],"0.6\u20131.6).":[111],"Clinical":[112],"characteristics":[113],"cancers":[116,136],"non-carriers":[123],"similar.":[125],"Loss":[126],"wild-type":[129],"allele":[131],"not":[133,176],"carriers.":[141],"No":[142],"type":[144],"more":[146],"common":[147],"relatives":[150,156],"compared":[154],"non-carriers.":[158],"The":[159,187],"p.Gln548Ter,":[163],"state":[168],"cause":[171],"syndrome,":[174],"does":[175],"appear":[177],"predispose":[179],"state.":[186],"finding":[188],"casts":[189],"doubt":[190],"on":[191],"designation":[193],"as":[196],"an":[197],"autosomal":[198],"dominant":[199]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2019-10-18T00:00:00"}
