{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:52:01Z","timestamp":1788911521663,"version":"build-2803163510"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T00:00:00Z","timestamp":1567036800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T00:00:00Z","timestamp":1567036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C1287\/A16563, C1287\/A10118"],"award-info":[{"award-number":["C1287\/A16563, C1287\/A10118"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, <jats:italic>FANCC<\/jats:italic>, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating <jats:italic>FANCC<\/jats:italic> variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. <jats:italic>FANCC<\/jats:italic> mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44\u20131.33, p\u2009=\u20090.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two <jats:italic>FANCC<\/jats:italic> variants, if any, is much smaller than for <jats:italic>BRCA1<\/jats:italic>, <jats:italic>BRCA2<\/jats:italic> or <jats:italic>PALB2<\/jats:italic> mutations. If this applies to all truncating variants in <jats:italic>FANCC<\/jats:italic> it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.<\/jats:p>","DOI":"10.1038\/s41598-019-48804-y","type":"journal-article","created":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T10:03:26Z","timestamp":1567073006000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Two truncating variants in FANCC and breast cancer risk"],"prefix":"10.1038","volume":"9","author":[{"given":"Thilo","family":"D\u00f6rk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Peterlongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arto","family":"Mannermaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjeet K.","family":"Bolla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe","family":"Dennis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Ahearn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4226-6435","authenticated-orcid":false,"given":"Irene L.","family":"Andrulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoda","family":"Anton-Culver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9320-8684","authenticated-orcid":false,"given":"Volker","family":"Arndt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristan J.","family":"Aronson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelie","family":"Augustinsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E. Beane","family":"Freeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias W.","family":"Beckmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Beeghly-Fadiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Behrens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Bermisheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl","family":"Blomqvist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia V.","family":"Bogdanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stig E.","family":"Bojesen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7531-2736","authenticated-orcid":false,"given":"Hiltrud","family":"Brauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermann","family":"Brenner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Burwinkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Canzian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsun L.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Chang-Claude","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen J.","family":"Chanock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji-Yeob","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Christiansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine L.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamila","family":"Czene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary B.","family":"Daly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"dos-Santos-Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7184-2932","authenticated-orcid":false,"given":"Miriam","family":"Dwek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana M.","family":"Eccles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6099-7066","authenticated-orcid":false,"given":"Arif B.","family":"Ekici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikael","family":"Eriksson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Gareth","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4885-8471","authenticated-orcid":false,"given":"Peter A.","family":"Fasching","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5100-623X","authenticated-orcid":false,"given":"Jonine","family":"Figueroa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Flyger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Fritschi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marike","family":"Gabrielson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Gago-Dominguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Gapstur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Garc\u00eda-Closas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A.","family":"Garc\u00eda-S\u00e1enz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mia M.","family":"Gaudet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham G.","family":"Giles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S.","family":"Goldberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David E.","family":"Goldgar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Gu\u00e9nel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lothar","family":"Haeberle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher A.","family":"Haiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niclas","family":"H\u00e5kansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Hamann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikael","family":"Hartman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Hauke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2601-3398","authenticated-orcid":false,"given":"Alexander","family":"Hein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hillemanns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans B. L.","family":"Hogervorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje J.","family":"Hooning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John L.","family":"Hopper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Howell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dezheng","family":"Huo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8023-4581","authenticated-orcid":false,"given":"Hidemi","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motoki","family":"Iwasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Jakubowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Janni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther M.","family":"John","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudolf","family":"Kaaks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daehee","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja Middha","family":"Kapoor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elza","family":"Khusnutdinova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Won","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cari M.","family":"Kitahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Koutros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kraft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vessela N.","family":"Kristensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ava","family":"Kwong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diether","family":"Lambrechts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loic Le","family":"Marchand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingmei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Lindstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Linet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wing-Yee","family":"Lo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jirong","family":"Long","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artitaya","family":"Lophatananon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Lubi\u0144ski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Manoochehri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siranoush","family":"Manoukian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Margolin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1761-6314","authenticated-orcid":false,"given":"Keitaro","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitris","family":"Mavroudis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons","family":"Meindl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3708-1732","authenticated-orcid":false,"given":"Usha","family":"Menon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5764-7268","authenticated-orcid":false,"given":"Roger L.","family":"Milne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nur Aishah","family":"Mohd Taib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6429-988X","authenticated-orcid":false,"given":"Kenneth","family":"Muir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Marie","family":"Mulligan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Neuhausen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0916-2976","authenticated-orcid":false,"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Neven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6382-4678","authenticated-orcid":false,"given":"William G.","family":"Newman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olufunmilayo I.","family":"Olopade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew F.","family":"Olshan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet E.","family":"Olson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e5kan","family":"Olsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sue K.","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjoung-Won","family":"Park-Simon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1685-8912","authenticated-orcid":false,"given":"Julian","family":"Peto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dijana","family":"Plaseska-Karanfilska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Pohl-Rescigno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadege","family":"Presneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Rack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Radice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad U.","family":"Rashid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8512-068X","authenticated-orcid":false,"given":"Gad","family":"Rennert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hedy S.","family":"Rennert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1634-7397","authenticated-orcid":false,"given":"Atocha","family":"Romero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Ruebner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanouil","family":"Saloustros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2228-429X","authenticated-orcid":false,"given":"Marjanka K.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita K.","family":"Schmutzler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael O.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minouk J.","family":"Schoemaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1340-0647","authenticated-orcid":false,"given":"Christopher","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Yang","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Ou","family":"Shu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Simard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Slager","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Snezhana","family":"Smichkoska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa C.","family":"Southey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Spinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5077-0124","authenticated-orcid":false,"given":"Jennifer","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Surowy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Swerdlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rulla M.","family":"Tamimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Tapper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo H.","family":"Teo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Beth","family":"Terry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda E.","family":"Toland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob A. E. M.","family":"Tollenaar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Torres-Mej\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Troester","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2943-6786","authenticated-orcid":false,"given":"Th\u00e9r\u00e8se","family":"Truong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4105-2774","authenticated-orcid":false,"given":"Shoichiro","family":"Tsugane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Untch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine M.","family":"Vachon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ans M. W. van den","family":"Ouweland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke M. van","family":"Veen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Vijai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Wendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicja","family":"Wolk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyh-Cherng","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4529-3727","authenticated-orcid":false,"given":"Argyrios","family":"Ziogas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elad","family":"Ziv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"ABCTB Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosemary","family":"Balleine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Baxter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Braye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Dahlstrom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Forbes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Soon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Marsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrienne","family":"Morey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirmala","family":"Pathmanathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodney","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan","family":"Spigelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Wilcken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desmond","family":"Yip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolajs","family":"Zeps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"NBCS Collaborators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Lise","family":"B\u00f8rresen-Dale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grethe I.","family":"Grenaker Aln\u00e6s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine K.","family":"Sahlberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Ottestad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf","family":"K\u00e5resen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Schlichting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marit Muri","family":"Holmen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toril","family":"Sauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vilde","family":"Haakensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olav","family":"Engebr\u00e5ten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f8rn","family":"Naume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Foss\u00e5","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile E.","family":"Kiserud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin V.","family":"Reinertsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c5slaug","family":"Helland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margit","family":"Riis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Geisler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6651-7166","authenticated-orcid":false,"given":"Alison M.","family":"Dunning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8494-732X","authenticated-orcid":false,"given":"Paul D. P.","family":"Pharoah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlev","family":"Schindler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8023-2009","authenticated-orcid":false,"given":"Peter","family":"Devilee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2444-3247","authenticated-orcid":false,"given":"Douglas F.","family":"Easton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,8,29]]},"reference":[{"key":"48804_CR1","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1038\/nrm.2016.48","volume":"17","author":"R Ceccaldi","year":"2016","unstructured":"Ceccaldi, R., Sarangi, P. & D\u2019Andrea, A. D. The Fanconi anaemia pathway: new players and new functions. Nat. Rev. Mol. Cell Biol. 17, 337\u2013349 (2016).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"48804_CR2","doi-asserted-by":"publisher","first-page":"3013","DOI":"10.1172\/JCI92069","volume":"127","author":"K Knies","year":"2017","unstructured":"Knies, K. et al. Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. J. Clin. Invest. 127, 3013\u20133027 (2017).","journal-title":"J. Clin. Invest."},{"key":"48804_CR3","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1038\/nrc.2017.116","volume":"18","author":"G Nalepa","year":"2018","unstructured":"Nalepa, G. & Clapp, D. W. Fanconi anaemia and cancer: an intricate relationship. Nat. Rev. Cancer 18, 168\u2013185 (2018).","journal-title":"Nat. Rev. Cancer"},{"key":"48804_CR4","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1093\/jnci\/djv214","volume":"107","author":"SJ Ramus","year":"2015","unstructured":"Ramus, S. J. et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J. Natl. Cancer Inst. 107, 11 (2015).","journal-title":"J. Natl. Cancer Inst."},{"key":"48804_CR5","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1136\/jmedgenet-2015-103529","volume":"53","author":"DF Easton","year":"2016","unstructured":"Easton, D. F. et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J. Med. Genet. 53, 298\u2013309 (2016).","journal-title":"J. Med. Genet."},{"key":"48804_CR6","doi-asserted-by":"publisher","first-page":"1898","DOI":"10.1093\/carcin\/bgp218","volume":"30","author":"MJ Garc\u00eda","year":"2009","unstructured":"Garc\u00eda, M. J. et al. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1\/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis 30, 1898\u20131902 (2009).","journal-title":"Carcinogenesis"},{"key":"48804_CR7","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/humu.22206","volume":"34","author":"JL Bakker","year":"2013","unstructured":"Bakker, J. L. et al. Analysis of the novel fanconi anemia gene SLX4\/FANCP in familial breast cancer cases. Hum. Mutat. 34, 70\u201373 (2013).","journal-title":"Hum. Mutat."},{"key":"48804_CR8","doi-asserted-by":"publisher","first-page":"1615","DOI":"10.1002\/humu.22438","volume":"34","author":"A Osorio","year":"2013","unstructured":"Osorio, A. et al. Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast\/ovarian cancer susceptibility alleles. Hum. Mutat. 34, 1615\u20131618 (2013).","journal-title":"Hum. Mutat."},{"key":"48804_CR9","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1111\/cge.12748","volume":"90","author":"F Lhota","year":"2016","unstructured":"Lhota, F. et al. Hereditary truncating mutations of DNA repair and other genes in BRCA1\/BRCA2\/PALB2-negatively tested breast cancer patients. Clin. Genet. 90, 324\u2013333 (2016).","journal-title":"Clin. Genet."},{"key":"48804_CR10","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/230370a0","volume":"230","author":"M Swift","year":"1971","unstructured":"Swift, M. Fanconi\u2019s anaemia in the genetics of neoplasia. Nature 230, 370\u2013373 (1971).","journal-title":"Nature"},{"key":"48804_CR11","first-page":"863","volume":"65","author":"M Swift","year":"1980","unstructured":"Swift, M., Caldwell, R. J. & Chase, C. Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J. Natl. Cancer Inst. 65, 863\u2013867 (1980).","journal-title":"J. Natl. Cancer Inst."},{"key":"48804_CR12","doi-asserted-by":"publisher","first-page":"1850","DOI":"10.1002\/1097-0142(19841101)54:9<1850::AID-CNCR2820540914>3.0.CO;2-G","volume":"54","author":"P Jacobs","year":"1984","unstructured":"Jacobs, P. & Karabus, C. Fanconi\u2019s anemia. A family study with 20-year follow-up including associated breast pathology. Cancer 54, 1850\u20131853 (1984).","journal-title":"Cancer"},{"key":"48804_CR13","doi-asserted-by":"publisher","first-page":"9591","DOI":"10.1158\/0008-5472.CAN-07-1501","volume":"67","author":"M Berwick","year":"2007","unstructured":"Berwick, M. et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res. 67, 9591\u20139596 (2007).","journal-title":"Cancer Res."},{"key":"48804_CR14","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1038\/356763a0","volume":"356","author":"CA Strathdee","year":"1992","unstructured":"Strathdee, C. A. et al. Cloning of cDNAs for Fanconi\u2019s anaemia by functional complementation. Nature 356, 763\u2013767 (1992).","journal-title":"Nature"},{"key":"48804_CR15","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1136\/jmg.31.11.868","volume":"31","author":"RA Gibson","year":"1994","unstructured":"Gibson, R. A. et al. Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families. J. Med. Genet. 31, 868\u2013871 (1994).","journal-title":"J. Med. Genet."},{"key":"48804_CR16","first-page":"595","volume":"54","author":"PC Verlander","year":"1994","unstructured":"Verlander, P. C. et al. Mutation analysis of the Fanconi anemia gene FACC. Am. J. Hum. Genet. 54, 595\u2013601 (1994).","journal-title":"Am. J. Hum. Genet."},{"key":"48804_CR17","doi-asserted-by":"publisher","first-page":"e1002894","DOI":"10.1371\/journal.pgen.1002894","volume":"8","author":"ER Thompson","year":"2012","unstructured":"Thompson, E. R. et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet. 8, e1002894 (2012).","journal-title":"PLoS Genet."},{"key":"48804_CR18","first-page":"8596","volume":"63","author":"S Seal","year":"2003","unstructured":"Seal, S. et al. Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res. 63, 8596\u20138599 (2003).","journal-title":"Cancer Res."},{"key":"48804_CR19","doi-asserted-by":"publisher","first-page":"e1003008","DOI":"10.1371\/journal.pgen.1003008","volume":"8","author":"NA Ellis","year":"2012","unstructured":"Ellis, N. A. & Offit, K. Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power. PLoS Genet. 8, e1003008 (2012).","journal-title":"PLoS Genet."},{"key":"48804_CR20","unstructured":"Fanconi anemia mutation database, http:\/\/www2.rockefeller.edu\/fanconi\/."},{"key":"48804_CR21","doi-asserted-by":"crossref","unstructured":"Michailidou, K. et al. Association analysis identifies 65 new breast cancer risk loci. Nature 551, 92\u201394 (2017).","DOI":"10.1038\/nature24284"},{"key":"48804_CR22","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1093\/hmg\/2.6.797","volume":"2","author":"RA Gibson","year":"1993","unstructured":"Gibson, R. A. et al. A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet. 2, 797\u2013799 (1993).","journal-title":"Hum Mol Genet."},{"key":"48804_CR23","doi-asserted-by":"crossref","unstructured":"Murer-Orlando, M., Llerena, J. C. Jr. & Birjandi, F. FACC gene mutations and early prenatal diagnosis of Fanconi\u2019s anaemia. Lancet. p. 686 (1993).","DOI":"10.1016\/0140-6736(93)91800-2"},{"key":"48804_CR24","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1007\/s004390050252","volume":"98","author":"JR Lo ten Foe","year":"1996","unstructured":"Lo ten Foe, J. R. et al. Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. Hum Genet. 98, 522\u2013523 (1996).","journal-title":"Hum Genet."},{"key":"48804_CR25","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1007\/s10549-010-1290-4","volume":"126","author":"N Bogdanova","year":"2011","unstructured":"Bogdanova, N. et al. PALB2 mutations in German and Russian patients with bilateral breast cancer. Breast Cancer Res. Treat. 126, 545\u2013550 (2011).","journal-title":"Breast Cancer Res. Treat."},{"key":"48804_CR26","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1038\/nature05609","volume":"446","author":"H Erkko","year":"2007","unstructured":"Erkko, H. et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 446, 316\u2013319 (2007).","journal-title":"Nature"},{"key":"48804_CR27","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2796","volume":"12","author":"MC Southey","year":"2010","unstructured":"Southey, M. C. et al. A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res. 12, R109 (2010).","journal-title":"Breast Cancer Res."},{"key":"48804_CR28","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1007\/s10689-013-9684-1","volume":"13","author":"M Noskowicz","year":"2014","unstructured":"Noskowicz, M. et al. Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe. Fam. Cancer 13, 137\u2013142 (2014).","journal-title":"Fam. Cancer"},{"key":"48804_CR29","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng1959","volume":"39","author":"N Rahman","year":"2007","unstructured":"Rahman, N. et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 39, 165\u2013167 (2007).","journal-title":"Nat. Genet."},{"key":"48804_CR30","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1002\/humu.22022","volume":"33","author":"M Tischkowitz","year":"2012","unstructured":"Tischkowitz, M. et al. Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Hum. Mutat. 33, 674\u2013680 (2012).","journal-title":"Hum. Mutat."},{"key":"48804_CR31","doi-asserted-by":"publisher","first-page":"3214","DOI":"10.1158\/1078-0432.CCR-08-3128","volume":"15","author":"T Heikkinen","year":"2009","unstructured":"Heikkinen, T. et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin. Cancer Res. 15, 3214\u20133222 (2009).","journal-title":"Clin. Cancer Res."},{"key":"48804_CR32","doi-asserted-by":"publisher","first-page":"15172","DOI":"10.1073\/pnas.1407909111","volume":"111","author":"JI Kiiski","year":"2014","unstructured":"Kiiski, J. I. et al. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc. Natl. Acad. Sci. USA 111, 15172\u201315177 (2014).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"48804_CR33","doi-asserted-by":"publisher","first-page":"5345","DOI":"10.1093\/hmg\/ddv251","volume":"24","author":"P Peterlongo","year":"2015","unstructured":"Peterlongo, P. et al. FANCM c.5791C\u2009>\u2009T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum. Mol. Genet. 24, 5345\u20135355 (2015).","journal-title":"Hum. Mol. Genet."},{"key":"48804_CR34","doi-asserted-by":"publisher","first-page":"50930","DOI":"10.18632\/oncotarget.15871","volume":"8","author":"E Dicks","year":"2017","unstructured":"Dicks, E. et al. Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene. Oncotarget 8, 50930\u201350940 (2017).","journal-title":"Oncotarget"},{"key":"48804_CR35","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1038\/gim.2017.123","volume":"20","author":"I Catucci","year":"2018","unstructured":"Catucci, I. et al. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. Genet. Med. 20, 452\u2013457 (2018).","journal-title":"Genet. Med."},{"key":"48804_CR36","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1038\/gim.2017.124","volume":"20","author":"M Bogliolo","year":"2018","unstructured":"Bogliolo, M. et al. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genet. Med. 20, 458\u2013463 (2018).","journal-title":"Genet. Med."},{"key":"48804_CR37","doi-asserted-by":"publisher","first-page":"1767","DOI":"10.1038\/ng.3785","volume":"49","author":"RL Milne","year":"2017","unstructured":"Milne, R. L. et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat. Genet. 49, 1767\u20131778 (2017).","journal-title":"Nat. Genet."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-48804-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-48804-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-48804-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,17]],"date-time":"2022-12-17T13:01:36Z","timestamp":1671282096000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-019-48804-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,29]]},"references-count":37,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,12]]}},"alternative-id":["48804"],"URL":"https:\/\/doi.org\/10.1038\/s41598-019-48804-y","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,29]]},"assertion":[{"value":"13 March 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 August 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"12524"}}