{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:51:04Z","timestamp":1791139864767,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,11,13]],"date-time":"2014-11-13T00:00:00Z","timestamp":1415836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Science Center","award":["NCN-2011\/03\/B\/NZ2\/01510"],"award-info":[{"award-number":["NCN-2011\/03\/B\/NZ2\/01510"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>\n                    A number of genes other than\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content>\n                    <\/jats:italic>\n                    and\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content>\n                    <\/jats:italic>\n                    have been associated with breast cancer predisposition, and extended genetic testing panels have been proposed. It is of interest to establish the full spectrum of deleterious mutations in women with familial breast cancer.We performed whole\u2010exome sequencing of 144 women with familial breast cancer and negative for 11 Polish founder mutations in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content>\n                    <\/jats:italic>\n                    ,\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">CHEK2<\/jats:styled-content>\n                    <\/jats:italic>\n                    and\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NBS1<\/jats:styled-content>\n                    <\/jats:italic>\n                    , and we evaluated the sequences of 12 known breast cancer susceptibility genes. A truncating mutation in a breast cancer gene was detected in 24 of 144 women (17%) with familial breast cancer. A\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation was detected in 12 cases, a (non\u2010founder)\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation was detected in 5 cases, a\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PALB2<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation was detected in 4 cases and an\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">ATM<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation was detected in 2 cases. Polish women with familial breast cancer who are negative for founder mutations in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content>\n                    <\/jats:italic>\n                    ,\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">CHEK2<\/jats:styled-content>\n                    <\/jats:italic>\n                    and\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NBS1<\/jats:styled-content>\n                    <\/jats:italic>\n                    should be fully screened for mutations in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA1<\/jats:styled-content>\n                    <\/jats:italic>\n                    ,\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content>\n                    <\/jats:italic>\n                    and\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PALB2<\/jats:styled-content>\n                    <\/jats:italic>\n                    . The\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PALB2<\/jats:styled-content>\n                    <\/jats:italic>\n                    founder mutation c.509_519delGA should be included in the panel of Polish founder mutations.\n                  <\/jats:p>","DOI":"10.1111\/cge.12524","type":"journal-article","created":{"date-parts":[[2014,10,20]],"date-time":"2014-10-20T05:02:13Z","timestamp":1413781333000},"page":"366-370","source":"Crossref","is-referenced-by-count":33,"title":["Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland"],"prefix":"10.1111","volume":"88","author":[{"given":"C.","family":"Cybulski","sequence":"first","affiliation":[{"name":"Department of Genetics and Pathology International Hereditary Cancer Center, Pomeranian Medical University  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Lubi\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology International Hereditary Cancer Center, Pomeranian Medical University  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Woko\u0142orczyk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology International Hereditary Cancer Center, Pomeranian Medical University  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Ku\u017aniak","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology International Hereditary Cancer Center, Pomeranian Medical University  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kashyap","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology International Hereditary Cancer Center, Pomeranian Medical University  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Sopik","sequence":"additional","affiliation":[{"name":"Women's College Research Institute, Women's College Hospital University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Huzarski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology International Hereditary Cancer Center, Pomeranian Medical University  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Gronwald","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology International Hereditary Cancer Center, Pomeranian Medical University  Szczecin Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Byrski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology 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