{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:28:55Z","timestamp":1790947735947,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,6,26]],"date-time":"2019-06-26T00:00:00Z","timestamp":1561507200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2015\/17\/B\/NZ5\/02543"],"award-info":[{"award-number":["2015\/17\/B\/NZ5\/02543"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2019,12,15]]},"abstract":"<jats:p>To optimize genetic testing, it is necessary to establish the spectrum of breast cancer\u2010predisposing mutations in particular ethnic groups. We studied 1,018 women with a strong family history for breast cancer (families with hereditary breast cancer; HBC) from genetically homogenous population of Poland, which is populated by ethnic Slavs, for mutations in 14 cancer susceptibility genes. Additionally, we compared the frequency of candidate pathogenic variants in breast cancer cases and controls. Germline mutations were detected in 512 of 1,018 probands with breast cancer (50.3%), including <jats:italic>BRCA1\/2<\/jats:italic> mutations detected in 420 families and non\u2010<jats:italic>BRCA<\/jats:italic> mutations seen in 92 families. Thirteen <jats:italic>BRCA1\/2<\/jats:italic> founder mutations represented 84% of all BRCA1\/2\u2010positive cases. Seven founder mutations of <jats:italic>CHEK2<\/jats:italic>, <jats:italic>PALB2<\/jats:italic>, <jats:italic>NBN<\/jats:italic> and <jats:italic>RECQL<\/jats:italic> represented 73% of all non\u2010BRCA\u2010positive cases. Odds ratios for hereditary breast cancer were 87.6 for <jats:italic>BRCA1<\/jats:italic>, 15.4 for <jats:italic>PALB2<\/jats:italic>, 7.2 for <jats:italic>CHEK2<\/jats:italic>, 2.8 for <jats:italic>NBN<\/jats:italic> and 15.8 for <jats:italic>RECQL<\/jats:italic>. Odds ratios for <jats:italic>XRCC2, BLM<\/jats:italic> and <jats:italic>BARD1<\/jats:italic> were below 1.3. In summary, we found that 20 founder mutations in six genes (<jats:italic>BRCA1\/2<\/jats:italic>, <jats:italic>CHEK2<\/jats:italic>, <jats:italic>PALB2<\/jats:italic>, <jats:italic>NBN<\/jats:italic> and <jats:italic>RECQL<\/jats:italic>) are responsible for 82% of Polish hereditary breast cancer families. A simple test for these 20 mutations will facilitate genetic testing for breast cancer susceptibility in Poland. It may also facilitate genetic testing for breast cancer susceptibility in other Slavic populations and women of Slavic descent worldwide.<\/jats:p>","DOI":"10.1002\/ijc.32492","type":"journal-article","created":{"date-parts":[[2019,6,8]],"date-time":"2019-06-08T16:45:08Z","timestamp":1560012308000},"page":"3311-3320","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["The spectrum of mutations predisposing to familial breast cancer in Poland"],"prefix":"10.1002","volume":"145","author":[{"given":"Cezary","family":"Cybulski","sequence":"first","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Klu\u017aniak","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Huzarski","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"},{"name":"Department of Clinical Genetics and Pathology University of Zielona G\u00f3ra  Zielona G\u00f3ra Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominika","family":"Woko\u0142orczyk","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7374-7912","authenticated-orcid":false,"given":"Aniruddh","family":"Kashyap","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogna","family":"Rusak","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaudia","family":"Stempa","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Gronwald","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Szymiczek","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital, University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Bagherzadeh","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital, University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Jakubowska","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"},{"name":"Independent Laboratory of Molecular Biology and Genetic Diagnostics Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadeusz","family":"D\u0119bniak","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0747-4850","authenticated-orcid":false,"given":"Marcin","family":"Lener","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Rudnicka","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Szwiec","sequence":"additional","affiliation":[{"name":"Department of Surgery and Oncology University of Zielona G\u00f3ra  Zielona G\u00f3ra Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Jarkiewicz\u2010Tretyn","sequence":"additional","affiliation":[{"name":"Cancer Genetics Laboratory  Toru\u0144 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Stawicka","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Pathology University of Zielona G\u00f3ra  Zielona G\u00f3ra Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawe\u0142","family":"Domaga\u0142a","sequence":"additional","affiliation":[{"name":"Department of Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5798-0626","authenticated-orcid":false,"given":"Steven A.","family":"Narod","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital, University of Toronto  Toronto Canada"},{"name":"Dalla Lana School of Public Health University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-3003","authenticated-orcid":false,"given":"Jan","family":"Lubi\u0144ski","sequence":"additional","affiliation":[{"name":"International Hereditary Cancer Center, Department of Genetics and Pathology Pomeranian Medical University in Szczecin  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad R.","family":"Akbari","sequence":"additional","affiliation":[{"name":"Women's College Research Institute Women's College Hospital, University of Toronto  Toronto Canada"},{"name":"Dalla Lana School of Public Health University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Polish Hereditary Breast Cancer Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1431"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1837"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-2283"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1959"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.23168"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21200"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng879"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.027"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-012-2357-1"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1501341"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12360"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(11)70076-6"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.11231"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2010.34.0778"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(15)70142-7"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3284"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12524"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-005-1409-1"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/302922"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-006-9182-3"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/CEJ.0b013e32809b4d20"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22281"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-006-9320-y"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.30116"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.09.079"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.147"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67627-1"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2007.12.5922"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1400382"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-08-3128"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104588"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/cam4.1376"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.31921"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.018"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2018.2956"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.59.5728"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.17-6-568"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2016.249"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-017-4605-x"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0009-7"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.2217\/fon-2018-0751"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgi360"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.21738"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.31579"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.32492","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.32492","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ijc.32492","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.32492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T13:20:45Z","timestamp":1694179245000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.32492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,26]]},"references-count":46,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12,15]]}},"alternative-id":["10.1002\/ijc.32492"],"URL":"https:\/\/doi.org\/10.1002\/ijc.32492","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,26]]},"assertion":[{"value":"2019-02-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}