{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T16:20:36Z","timestamp":1783786836462,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,7,30]],"date-time":"2014-07-30T00:00:00Z","timestamp":1406678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Finnish Cancer Foundation"},{"name":"Sigrid Juselius Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:p>Mutations in downstream Fanconi anemia (<jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content>) pathway genes, <jats:italic><jats:styled-content style=\"fixed-case\">BRCA2<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">PALB2<\/jats:styled-content><\/jats:italic>, <jats:italic><jats:styled-content style=\"fixed-case\">BRIP1<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">RAD51C<\/jats:styled-content><\/jats:italic>, explain part of the hereditary breast cancer susceptibility, but the contribution of other <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> genes has remained questionable. Due to <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content>'s rarity, the finding of recurrent deleterious <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> mutations among breast cancer families is challenging. The use of founder populations, such as the Finns, could provide some advantage in this. Here, we have resolved complementation groups and causative mutations of five <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> patients, representing the first mutation confirmed <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> cases in Finland. These patients belonged to complementation groups <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content>\u2010A (<jats:italic>n<\/jats:italic>\u2009=\u20093), <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content>\u2010G (<jats:italic>n<\/jats:italic>\u2009=\u20091) and <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content>\u2010I (<jats:italic>n<\/jats:italic>\u2009=\u20091). The prevalence of the six <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> causing mutations was then studied in breast (<jats:italic>n<\/jats:italic>\u2009=\u20091840) and prostate (<jats:italic>n<\/jats:italic>\u2009=\u2009565) cancer cohorts, and in matched controls (<jats:italic>n<\/jats:italic>\u2009=\u20091176 females, <jats:italic>n<\/jats:italic>\u2009=\u2009469 males). All mutations were recurrent, but no significant association with cancer susceptibility was observed for any: the prevalence of <jats:italic><jats:styled-content style=\"fixed-case\">FANCI<\/jats:styled-content><\/jats:italic> c.2957_2969del and c.<jats:styled-content style=\"fixed-case\">3041G<\/jats:styled-content>&gt;A mutations was even highest in healthy males (1.7%). This strengthens the exclusive role of downstream genes in cancer predisposition. From a clinical point of view, current results provide fundamental information of the mutations to be tested first in all suspected <jats:styled-content style=\"fixed-case\">FA<\/jats:styled-content> cases in Finland.<\/jats:p>","DOI":"10.1111\/cge.12447","type":"journal-article","created":{"date-parts":[[2014,7,2]],"date-time":"2014-07-02T18:48:39Z","timestamp":1404326919000},"page":"68-73","source":"Crossref","is-referenced-by-count":19,"title":["Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer"],"prefix":"10.1111","volume":"88","author":[{"given":"T.","family":"Mantere","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry and Biocenter Oulu, Laboratory of Cancer Genetics and Tumor Biology University of Oulu  Oulu Finland"},{"name":"Laboratory of Cancer Genetics and Tumor Biology Northern Finland Laboratory Centre NordLab  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Haanp\u00e4\u00e4","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Biocenter Oulu, Laboratory of Cancer Genetics and Tumor Biology University of Oulu  Oulu Finland"},{"name":"Laboratory of Cancer Genetics and Tumor Biology Northern Finland Laboratory Centre NordLab  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hanenberg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Riley Hospital for Children Indiana University School of Medicine  Indianapolis IN USA"},{"name":"Department of Otorhinolaryngology &amp; Head\/Neck Surgery Heinrich Heine University School of Medicine  Duesseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Schleutker","sequence":"additional","affiliation":[{"name":"BioMediTech and FimLab Laboratories University of Tampere  Tampere Finland"},{"name":"Medical Biochemistry and Genetics, Institute of Biomedicine University of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kallioniemi","sequence":"additional","affiliation":[{"name":"BioMediTech and FimLab Laboratories University of Tampere  Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"K\u00e4hk\u00f6nen","sequence":"additional","affiliation":[{"name":"FimLab Laboratories Laboratory of Clinical Genetics  Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Parto","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Tampere University Hospital  Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Avela","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University of Helsinki, Helsinki University Central Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University of Helsinki, Helsinki University Central Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"von Koskull","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University of Helsinki, Helsinki University Central Hospital  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Hartikainen","sequence":"additional","affiliation":[{"name":"School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine; Cancer Center of Eastern Finland University of Eastern Finland  Kuopio Finland"},{"name":"Imaging Center, Department of Clinical Pathology Kuopio University Hospital  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.\u2010M.","family":"Kosma","sequence":"additional","affiliation":[{"name":"School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine; Cancer Center of Eastern Finland University of Eastern Finland  Kuopio Finland"},{"name":"Imaging Center, Department of Clinical Pathology Kuopio University Hospital  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.\u2010L.","family":"Laasanen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetics Outpatient Clinic, and Department of Dermatology Tampere University Hospital  Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Mannermaa","sequence":"additional","affiliation":[{"name":"School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine; Cancer Center of Eastern Finland University of Eastern Finland  Kuopio Finland"},{"name":"Imaging Center, Department of Clinical Pathology Kuopio University Hospital  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Pylk\u00e4s","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Biocenter Oulu, Laboratory of Cancer Genetics and Tumor Biology University of Oulu  Oulu Finland"},{"name":"Laboratory of Cancer Genetics and Tumor Biology Northern Finland Laboratory Centre NordLab  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Winqvist","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Biocenter Oulu, Laboratory of Cancer Genetics and Tumor Biology University of Oulu  Oulu Finland"},{"name":"Laboratory of Cancer Genetics and Tumor Biology Northern Finland Laboratory Centre NordLab  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0809889"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0510-368"},{"issue":"24","key":"e_1_2_6_5_1","first-page":"8596","article-title":"Evaluation of Fanconi anemia genes in familial breast cancer predisposition","volume":"63","author":"Seal S","year":"2003","journal-title":"Cancer Res"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgp218"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002894"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05609"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/91.15.1310"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-472X(02)00782-8"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2010.12.020"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002734"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2832"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.18.1529"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-05-1417"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/132856"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1171202"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12447","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12447","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T06:42:53Z","timestamp":1696315373000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12447"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,30]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1111\/cge.12447"],"URL":"https:\/\/doi.org\/10.1111\/cge.12447","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,30]]}}}