{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:26:04Z","timestamp":1791300364710,"version":"4.1.0"},"reference-count":39,"publisher":"National Academy of Sciences","issue":"42","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2014,10,21]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    The major portion of hereditary breast cancer still remains unexplained, and many susceptibility loci are yet to be found. Exome sequencing of 24 high-risk familial\n                    <jats:italic>BRCA1\/2<\/jats:italic>\n                    -negative breast cancer patients and further genotyping of a large sample set of breast\/ovarian cancer cases and controls was used to discover previously unidentified susceptibility alleles and genes. A significant association of a\n                    <jats:italic>FANCM<\/jats:italic>\n                    nonsense mutation with breast cancer, especially triple-negative breast cancer, identifies\n                    <jats:italic>FANCM<\/jats:italic>\n                    as a breast cancer susceptibility gene. Identification of such risk alleles is expected to improve cancer risk assessment for breast cancer patients and families, and may lead to improvements in the prevention, early diagnosis, and treatment of cancer.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1407909111","type":"journal-article","created":{"date-parts":[[2014,10,6]],"date-time":"2014-10-06T22:54:30Z","timestamp":1412636070000},"page":"15172-15177","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":168,"title":["Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer"],"prefix":"10.1073","volume":"111","author":[{"given":"Johanna I.","family":"Kiiski","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liisa M.","family":"Pelttari","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edda S.","family":"Freysteinsdottir","sequence":"additional","affiliation":[{"name":"Molecular Pathology Unit, Department of Pathology, Landspitali University Hospital, 101 Reykjavik, Iceland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inga","family":"Reynisdottir","sequence":"additional","affiliation":[{"name":"Cell Biology Unit, Department of Pathology, Landspitali University Hospital, 101 Reykjavik, Iceland;"},{"name":"Biomedical Center, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven N.","family":"Hart","sequence":"additional","affiliation":[{"name":"Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermela","family":"Shimelis","sequence":"additional","affiliation":[{"name":"Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Vilske","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Kallioniemi","sequence":"additional","affiliation":[{"name":"BioMediTech, University of Tampere and Fimlab Laboratories, FIN-33014, Tampere, Finland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Schleutker","sequence":"additional","affiliation":[{"name":"BioMediTech, University of Tampere and Fimlab Laboratories, FIN-33014, Tampere, Finland;"},{"name":"Department of Medical Biochemistry and Genetics, Institute of Biomedicine, University of Turku, FIN-20520, Turku, Finland; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arto","family":"Leminen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"B\u00fctzow","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;"},{"name":"Departments of hPathology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl","family":"Blomqvist","sequence":"additional","affiliation":[{"name":"Oncology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa B.","family":"Barkardottir","sequence":"additional","affiliation":[{"name":"Molecular Pathology Unit, Department of Pathology, Landspitali University Hospital, 101 Reykjavik, Iceland;"},{"name":"Biomedical Center, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[{"name":"Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Helsinki University Central Hospital, FIN-00029 HUS, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, FIN-00029 HUS, Helsinki, Finland;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2014,10,6]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.3322\/caac.20107"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.3322\/canjclin.56.6.323"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.25516"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0802968"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrc2840"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1400382"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2563"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-012-2057-x"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.f.136"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3118"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-pathol-011811-132509"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI58321"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0809889"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200529"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05609"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr229"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-08-3128"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1913"},{"key":"e_1_3_3_19_2","first-page":"749","article-title":"Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype","volume":"58","author":"Gudmundsson J","year":"1996","unstructured":"J Gudmundsson, , Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. 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