{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T11:44:58Z","timestamp":1775043898309,"version":"3.50.1"},"reference-count":69,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001505","name":"Manatu Hauora | Health Research Council of New Zealand","doi-asserted-by":"publisher","award":["17\/113"],"award-info":[{"award-number":["17\/113"]}],"id":[{"id":"10.13039\/501100001505","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Commun Biol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 <jats:italic>BRCA1<\/jats:italic> and 10,740 <jats:italic>BRCA2<\/jats:italic> pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in <jats:italic>BRCA1<\/jats:italic> suggested an elevated breast cancer risk estimate (hazard ratio (HR)\u2009=\u20091.21), 95% confidence interval (95% CI\u2009=\u20091.09\u20131.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping <jats:italic>SULT1A1<\/jats:italic> suggested a decreased breast cancer risk (HR\u2009=\u20090.73, 95% CI 0.59-0.91) in <jats:italic>BRCA1<\/jats:italic> pathogenic variant carriers. Functional analyses of <jats:italic>SULT1A1<\/jats:italic> showed that reduced mRNA expression in pathogenic <jats:italic>BRCA1<\/jats:italic> variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in <jats:italic>BRCA1<\/jats:italic> plus <jats:italic>SULT1A1<\/jats:italic> deletions contribute to variable breast cancer risk in <jats:italic>BRCA1<\/jats:italic> carriers.<\/jats:p>","DOI":"10.1038\/s42003-022-03978-6","type":"journal-article","created":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T17:04:38Z","timestamp":1665075878000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Copy number variants as modifiers of breast cancer risk for BRCA1\/BRCA2 pathogenic variant carriers"],"prefix":"10.1038","volume":"5","author":[{"given":"Christopher","family":"Hakkaart","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5607-4517","authenticated-orcid":false,"given":"John F.","family":"Pearson","sequence":"additional","affiliation":[]},{"given":"Louise","family":"Marquart","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4591-1214","authenticated-orcid":false,"given":"Joe","family":"Dennis","sequence":"additional","affiliation":[]},{"given":"George A. R.","family":"Wiggins","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3781-7570","authenticated-orcid":false,"given":"Daniel R.","family":"Barnes","sequence":"additional","affiliation":[]},{"given":"Bridget A.","family":"Robinson","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2175-9537","authenticated-orcid":false,"given":"Peter D.","family":"Mace","sequence":"additional","affiliation":[]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4226-6435","authenticated-orcid":false,"given":"Irene L.","family":"Andrulis","sequence":"additional","affiliation":[]},{"given":"Banu K.","family":"Arun","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9364-9778","authenticated-orcid":false,"given":"Jacopo","family":"Azzollini","sequence":"additional","affiliation":[]},{"given":"Judith","family":"Balma\u00f1a","sequence":"additional","affiliation":[]},{"given":"Rosa B.","family":"Barkardottir","sequence":"additional","affiliation":[]},{"given":"Sami","family":"Belhadj","sequence":"additional","affiliation":[]},{"given":"Lieke","family":"Berger","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7935-5933","authenticated-orcid":false,"given":"Marinus J.","family":"Blok","sequence":"additional","affiliation":[]},{"given":"Susanne E.","family":"Boonen","sequence":"additional","affiliation":[]},{"given":"Julika","family":"Borde","sequence":"additional","affiliation":[]},{"given":"Angela R.","family":"Bradbury","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1945-3512","authenticated-orcid":false,"given":"Joan","family":"Brunet","sequence":"additional","affiliation":[]},{"given":"Saundra S.","family":"Buys","sequence":"additional","affiliation":[]},{"given":"Maria A.","family":"Caligo","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7773-4155","authenticated-orcid":false,"given":"Ian","family":"Campbell","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0841-7372","authenticated-orcid":false,"given":"Kathleen B. M.","family":"Claes","sequence":"additional","affiliation":[]},{"name":"GEMO Study Collaborators","sequence":"additional","affiliation":[]},{"name":"EMBRACE Collaborators","sequence":"additional","affiliation":[]},{"given":"Marie-Agn\u00e8s","family":"Collonge-Rame","sequence":"additional","affiliation":[]},{"given":"Jackie","family":"Cook","sequence":"additional","affiliation":[]},{"given":"Casey","family":"Cosgrove","sequence":"additional","affiliation":[]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[]},{"given":"Mary B.","family":"Daly","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3837-7690","authenticated-orcid":false,"given":"Sita","family":"Dandiker","sequence":"additional","affiliation":[]},{"given":"Rosemarie","family":"Davidson","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8113-1410","authenticated-orcid":false,"given":"Miguel","family":"de la Hoya","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9410-8941","authenticated-orcid":false,"given":"Robin","family":"de Putter","sequence":"additional","affiliation":[]},{"given":"Capucine","family":"Delnatte","sequence":"additional","affiliation":[]},{"given":"Mallika","family":"Dhawan","sequence":"additional","affiliation":[]},{"given":"Orland","family":"Diez","sequence":"additional","affiliation":[]},{"given":"Yuan Chun","family":"Ding","sequence":"additional","affiliation":[]},{"given":"Susan M.","family":"Domchek","sequence":"additional","affiliation":[]},{"given":"Alan","family":"Donaldson","sequence":"additional","affiliation":[]},{"given":"Jacqueline","family":"Eason","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2444-3247","authenticated-orcid":false,"given":"Douglas F.","family":"Easton","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5589-3622","authenticated-orcid":false,"given":"Hans","family":"Ehrencrona","sequence":"additional","affiliation":[]},{"given":"Christoph","family":"Engel","sequence":"additional","affiliation":[]},{"given":"D. Gareth","family":"Evans","sequence":"additional","affiliation":[]},{"given":"Ulrike","family":"Faust","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1736-0112","authenticated-orcid":false,"given":"Lidia","family":"Feliubadal\u00f3","sequence":"additional","affiliation":[]},{"given":"Florentia","family":"Fostira","sequence":"additional","affiliation":[]},{"given":"Eitan","family":"Friedman","sequence":"additional","affiliation":[]},{"given":"Megan","family":"Frone","sequence":"additional","affiliation":[]},{"given":"Debra","family":"Frost","sequence":"additional","affiliation":[]},{"given":"Judy","family":"Garber","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7937-5443","authenticated-orcid":false,"given":"Simon A.","family":"Gayther","sequence":"additional","affiliation":[]},{"given":"Andrea","family":"Gehrig","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4410-8668","authenticated-orcid":false,"given":"Paul","family":"Gesta","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3987-9580","authenticated-orcid":false,"given":"Andrew K.","family":"Godwin","sequence":"additional","affiliation":[]},{"given":"David E.","family":"Goldgar","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1852-9239","authenticated-orcid":false,"given":"Mark H.","family":"Greene","sequence":"additional","affiliation":[]},{"given":"Eric","family":"Hahnen","sequence":"additional","affiliation":[]},{"given":"Christopher R.","family":"Hake","sequence":"additional","affiliation":[]},{"given":"Ute","family":"Hamann","sequence":"additional","affiliation":[]},{"given":"Thomas V. O.","family":"Hansen","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8236-4075","authenticated-orcid":false,"given":"Jan","family":"Hauke","sequence":"additional","affiliation":[]},{"given":"Julia","family":"Hentschel","sequence":"additional","affiliation":[]},{"given":"Natalie","family":"Herold","sequence":"additional","affiliation":[]},{"given":"Ellen","family":"Honisch","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8397-4078","authenticated-orcid":false,"given":"Peter J.","family":"Hulick","sequence":"additional","affiliation":[]},{"given":"Evgeny N.","family":"Imyanitov","sequence":"additional","affiliation":[]},{"name":"SWE-BRCA Investigators","sequence":"additional","affiliation":[]},{"name":"kConFab Investigators","sequence":"additional","affiliation":[]},{"name":"HEBON Investigators","sequence":"additional","affiliation":[]},{"given":"Klaartje","family":"van Engelen","sequence":"additional","affiliation":[]},{"given":"Marijke R.","family":"Wevers","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9646-1260","authenticated-orcid":false,"given":"Claudine","family":"Isaacs","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1258-4843","authenticated-orcid":false,"given":"Louise","family":"Izatt","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2004-3246","authenticated-orcid":false,"given":"Angel","family":"Izquierdo","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5650-0501","authenticated-orcid":false,"given":"Anna","family":"Jakubowska","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4361-4657","authenticated-orcid":false,"given":"Paul A.","family":"James","sequence":"additional","affiliation":[]},{"given":"Ramunas","family":"Janavicius","sequence":"additional","affiliation":[]},{"given":"Esther M.","family":"John","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7933-151X","authenticated-orcid":false,"given":"Vijai","family":"Joseph","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9451-2933","authenticated-orcid":false,"given":"Beth Y.","family":"Karlan","sequence":"additional","affiliation":[]},{"given":"Zoe","family":"Kemp","sequence":"additional","affiliation":[]},{"given":"Judy","family":"Kirk","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0470-0309","authenticated-orcid":false,"given":"Irene","family":"Konstantopoulou","sequence":"additional","affiliation":[]},{"given":"Marco","family":"Koudijs","sequence":"additional","affiliation":[]},{"given":"Ava","family":"Kwong","sequence":"additional","affiliation":[]},{"given":"Yael","family":"Laitman","sequence":"additional","affiliation":[]},{"given":"Fiona","family":"Lalloo","sequence":"additional","affiliation":[]},{"given":"Christine","family":"Lasset","sequence":"additional","affiliation":[]},{"given":"Charlotte","family":"Lautrup","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7198-5906","authenticated-orcid":false,"given":"Conxi","family":"Lazaro","sequence":"additional","affiliation":[]},{"given":"Cl\u00e9mentine","family":"Legrand","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5756-6222","authenticated-orcid":false,"given":"Goska","family":"Leslie","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7404-4549","authenticated-orcid":false,"given":"Fabienne","family":"Lesueur","sequence":"additional","affiliation":[]},{"given":"Phuong L.","family":"Mai","sequence":"additional","affiliation":[]},{"given":"Siranoush","family":"Manoukian","sequence":"additional","affiliation":[]},{"given":"V\u00e9ronique","family":"Mari","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3428-3366","authenticated-orcid":false,"given":"John W. M.","family":"Martens","sequence":"additional","affiliation":[]},{"given":"Lesley","family":"McGuffog","sequence":"additional","affiliation":[]},{"given":"Noura","family":"Mebirouk","sequence":"additional","affiliation":[]},{"given":"Alfons","family":"Meindl","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9739-8462","authenticated-orcid":false,"given":"Austin","family":"Miller","sequence":"additional","affiliation":[]},{"given":"Marco","family":"Montagna","sequence":"additional","affiliation":[]},{"given":"Lidia","family":"Moserle","sequence":"additional","affiliation":[]},{"given":"Emmanuelle","family":"Mouret-Fourme","sequence":"additional","affiliation":[]},{"given":"Hannah","family":"Musgrave","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9630-5049","authenticated-orcid":false,"given":"Sophie","family":"Nambot","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6740-0901","authenticated-orcid":false,"given":"Katherine L.","family":"Nathanson","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5053-0390","authenticated-orcid":false,"given":"Susan L.","family":"Neuhausen","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0916-2976","authenticated-orcid":false,"given":"Heli","family":"Nevanlinna","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1558-3627","authenticated-orcid":false,"given":"Joanne Ngeow Yuen","family":"Yie","sequence":"additional","affiliation":[]},{"given":"Tu","family":"Nguyen-Dumont","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2491-5187","authenticated-orcid":false,"given":"Liene","family":"Nikitina-Zake","sequence":"additional","affiliation":[]},{"given":"Kenneth","family":"Offit","sequence":"additional","affiliation":[]},{"given":"Edith","family":"Olah","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9936-1599","authenticated-orcid":false,"given":"Olufunmilayo I.","family":"Olopade","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8124-3984","authenticated-orcid":false,"given":"Ana","family":"Osorio","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3627-3791","authenticated-orcid":false,"given":"Claus-Eric","family":"Ott","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5002-9707","authenticated-orcid":false,"given":"Sue K.","family":"Park","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3242-8477","authenticated-orcid":false,"given":"Michael T.","family":"Parsons","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9902-8040","authenticated-orcid":false,"given":"Inge Sokilde","family":"Pedersen","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Peixoto","sequence":"additional","affiliation":[]},{"given":"Pedro","family":"Perez-Segura","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6951-6855","authenticated-orcid":false,"given":"Paolo","family":"Peterlongo","sequence":"additional","affiliation":[]},{"given":"Timea","family":"Pocza","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6298-4111","authenticated-orcid":false,"given":"Paolo","family":"Radice","sequence":"additional","affiliation":[]},{"given":"Juliane","family":"Ramser","sequence":"additional","affiliation":[]},{"given":"Johanna","family":"Rantala","sequence":"additional","affiliation":[]},{"given":"Gustavo C.","family":"Rodriguez","sequence":"additional","affiliation":[]},{"given":"Karina","family":"R\u00f8nlund","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3859-6941","authenticated-orcid":false,"given":"Efraim H.","family":"Rosenberg","sequence":"additional","affiliation":[]},{"given":"Maria","family":"Rossing","sequence":"additional","affiliation":[]},{"given":"Rita K.","family":"Schmutzler","sequence":"additional","affiliation":[]},{"given":"Payal D.","family":"Shah","sequence":"additional","affiliation":[]},{"given":"Saba","family":"Sharif","sequence":"additional","affiliation":[]},{"given":"Priyanka","family":"Sharma","sequence":"additional","affiliation":[]},{"given":"Lucy E.","family":"Side","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6906-3390","authenticated-orcid":false,"given":"Jacques","family":"Simard","sequence":"additional","affiliation":[]},{"given":"Christian F.","family":"Singer","sequence":"additional","affiliation":[]},{"given":"Katie","family":"Snape","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8797-0816","authenticated-orcid":false,"given":"Doris","family":"Steinemann","sequence":"additional","affiliation":[]},{"given":"Dominique","family":"Stoppa-Lyonnet","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4051-5888","authenticated-orcid":false,"given":"Christian","family":"Sutter","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1063-5352","authenticated-orcid":false,"given":"Yen Yen","family":"Tan","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4896-5982","authenticated-orcid":false,"given":"Manuel R.","family":"Teixeira","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0444-590X","authenticated-orcid":false,"given":"Soo Hwang","family":"Teo","sequence":"additional","affiliation":[]},{"given":"Mads","family":"Thomassen","sequence":"additional","affiliation":[]},{"given":"Darcy L.","family":"Thull","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7880-0628","authenticated-orcid":false,"given":"Marc","family":"Tischkowitz","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0271-1792","authenticated-orcid":false,"given":"Amanda E.","family":"Toland","sequence":"additional","affiliation":[]},{"given":"Alison H.","family":"Trainer","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8118-8364","authenticated-orcid":false,"given":"Vishakha","family":"Tripathi","sequence":"additional","affiliation":[]},{"given":"Nadine","family":"Tung","sequence":"additional","affiliation":[]},{"given":"Klaartje","family":"van Engelen","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2077-230X","authenticated-orcid":false,"given":"Elizabeth J.","family":"van Rensburg","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7416-5137","authenticated-orcid":false,"given":"Ana","family":"Vega","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2804-0840","authenticated-orcid":false,"given":"Alessandra","family":"Viel","sequence":"additional","affiliation":[]},{"given":"Lisa","family":"Walker","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6714-092X","authenticated-orcid":false,"given":"Jeffrey N.","family":"Weitzel","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8008-6008","authenticated-orcid":false,"given":"Marike R.","family":"Wevers","sequence":"additional","affiliation":[]},{"given":"Georgia","family":"Chenevix-Trench","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1337-7897","authenticated-orcid":false,"given":"Amanda B.","family":"Spurdle","sequence":"additional","affiliation":[]},{"given":"Antonis C.","family":"Antoniou","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0018-3719","authenticated-orcid":false,"given":"Logan C.","family":"Walker","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"key":"3978_CR1","doi-asserted-by":"publisher","first-page":"2402","DOI":"10.1001\/jama.2017.7112","volume":"317","author":"KB Kuchenbaecker","year":"2017","unstructured":"Kuchenbaecker, K. B. et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317, 2402\u20132416 (2017).","journal-title":"JAMA"},{"key":"3978_CR2","doi-asserted-by":"publisher","DOI":"10.1186\/bcr1670","volume":"9","author":"G Chenevix-Trench","year":"2007","unstructured":"Chenevix-Trench, G. et al. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res 9, 104 (2007).","journal-title":"Breast Cancer Res"},{"key":"3978_CR3","doi-asserted-by":"publisher","first-page":"T69","DOI":"10.1530\/ERC-16-0277","volume":"23","author":"RL Milne","year":"2016","unstructured":"Milne, R. L. & Antoniou, A. C. Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers. Endocr. Relat. Cancer 23, T69\u2013T84 (2016).","journal-title":"Endocr. Relat. Cancer"},{"key":"3978_CR4","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20496-3","volume":"12","author":"J Coignard","year":"2021","unstructured":"Coignard, J. et al. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1\/BRCA2 mutation carriers. Nat. Commun. 12, 1078 (2021).","journal-title":"Nat. Commun."},{"key":"3978_CR5","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."},{"key":"3978_CR6","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1038\/s41588-020-0609-2","volume":"52","author":"H Zhang","year":"2020","unstructured":"Zhang, H. et al. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat. Genet. 52, 572\u2013581 (2020).","journal-title":"Nat. Genet."},{"key":"3978_CR7","doi-asserted-by":"publisher","first-page":"1653","DOI":"10.1038\/s41436-020-0862-x","volume":"22","author":"DR Barnes","year":"2020","unstructured":"Barnes, D. R. et al. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet. Med. 22, 1653\u20131666 (2020).","journal-title":"Genet. Med."},{"key":"3978_CR8","doi-asserted-by":"publisher","first-page":"djw302","DOI":"10.1093\/jnci\/djw302","volume":"109","author":"KB Kuchenbaecker","year":"2017","unstructured":"Kuchenbaecker, K. B. et al. Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. J. Natl Cancer Inst. 109, djw302 (2017).","journal-title":"J. Natl Cancer Inst."},{"key":"3978_CR9","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1038\/s41586-020-2371-0","volume":"583","author":"HJ Abel","year":"2020","unstructured":"Abel, H. J. et al. Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83\u201389 (2020).","journal-title":"Nature"},{"key":"3978_CR10","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1038\/nrg3871","volume":"16","author":"M Zarrei","year":"2015","unstructured":"Zarrei, M., MacDonald, J. R., Merico, D. & Scherer, S. W. A copy number variation map of the human genome. Nat. Rev. Genet. 16, 172\u2013183 (2015).","journal-title":"Nat. Rev. Genet."},{"key":"3978_CR11","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1038\/nature08516","volume":"464","author":"DF Conrad","year":"2010","unstructured":"Conrad, D. F. et al. Origins and functional impact of copy number variation in the human genome. Nature 464, 704\u2013712 (2010).","journal-title":"Nature"},{"key":"3978_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-017-14799-7","volume":"7","author":"M Kumaran","year":"2017","unstructured":"Kumaran, M. et al. Germline copy number variations are associated with breast cancer risk and prognosis. Sci. Rep. 7, 1\u201315 (2017).","journal-title":"Sci. Rep."},{"key":"3978_CR13","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1093\/jnci\/djt018","volume":"105","author":"J Long","year":"2013","unstructured":"Long, J. et al. A common deletion in the APOBEC3 genes and breast cancer risk. J. Natl Cancer Inst. 105, 573\u2013579 (2013).","journal-title":"J. Natl Cancer Inst."},{"key":"3978_CR14","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1038\/ejhg.2016.203","volume":"25","author":"LC Walker","year":"2017","unstructured":"Walker, L. C. et al. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur. J. Hum. Genet. 25, 432\u2013438 (2017).","journal-title":"Eur. J. Hum. Genet."},{"key":"3978_CR15","doi-asserted-by":"publisher","first-page":"2240","DOI":"10.1093\/carcin\/bgt185","volume":"34","author":"D Xuan","year":"2013","unstructured":"Xuan, D. et al. APOBEC3 deletion polymorphism is associated with breast cancer risk among women of European ancestry. Carcinogenesis 34, 2240\u20132243 (2013).","journal-title":"Carcinogenesis"},{"key":"3978_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13058-017-0825-6","volume":"19","author":"LC Walker","year":"2017","unstructured":"Walker, L. C. et al. Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. Breast Cancer Res 19, 1\u20138 (2017).","journal-title":"Breast Cancer Res"},{"key":"3978_CR17","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1158\/1055-9965.EPI-16-0106","volume":"26","author":"CI Amos","year":"2017","unstructured":"Amos, C. I. et al. The OncoArray Consortium: a network for understanding the genetic architecture of common cancers. Cancer Epidemiol. Biomark. Prev. 26, 126\u2013135 (2017).","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"3978_CR18","doi-asserted-by":"publisher","first-page":"1457","DOI":"10.1038\/sj.bjc.6604305","volume":"98","author":"AC Antoniou","year":"2008","unstructured":"Antoniou, A. C. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br. J. Cancer 98, 1457\u20131466 (2008).","journal-title":"Br. J. Cancer"},{"key":"3978_CR19","doi-asserted-by":"crossref","unstructured":"Bojesen, S. E. et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet 45, 371\u2013384 (2013).","DOI":"10.1038\/ng.2566"},{"key":"3978_CR20","doi-asserted-by":"publisher","first-page":"2773","DOI":"10.1158\/0008-5472.CAN-13-2611","volume":"74","author":"KI Savage","year":"2014","unstructured":"Savage, K. I. et al. BRCA1 deficiency exacerbates estrogen-induced DNA damage and genomic instability. Cancer Res 74, 2773\u20132784 (2014).","journal-title":"Cancer Res"},{"key":"3978_CR21","first-page":"4842","volume":"61","author":"ME Moynahan","year":"2001","unstructured":"Moynahan, M. E., Cui, T. Y. & Jasin, M. Homology-directed DNA repair, Mitomycin-C resistance, and chromosome stability is restored with correction of a Brca1 mutation. Cancer Res 61, 4842\u20134850 (2001).","journal-title":"Cancer Res"},{"key":"3978_CR22","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1097\/00008571-200111000-00006","volume":"11","author":"DE Bamber","year":"2001","unstructured":"Bamber, D. E. et al. Phenol sulphotransferase SULT1A1*1 genotype is associated with reduced risk of colorectal cancer. Pharmacogenetics 11, 679\u2013685 (2001).","journal-title":"Pharmacogenetics"},{"key":"3978_CR23","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1093\/carcin\/bgh053","volume":"25","author":"G Liang","year":"2004","unstructured":"Liang, G., Miao, X., Zhou, Y., Tan, W. & Lin, D. A functional polymorphism in the SULT1A1 gene (G638A) is associated with risk of lung cancer in relation to tobacco smoking. Carcinogenesis 25, 773\u2013778 (2004).","journal-title":"Carcinogenesis"},{"key":"3978_CR24","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1002\/ijc.10728","volume":"102","author":"S Ozawa","year":"2002","unstructured":"Ozawa, S. et al. Association of genotypes of carcinogen\u2010activating enzymes, phenol sulfotransferase SULT1A1 (ST1A3) and arylamine N\u2010acetyltransferase NAT2, with urothelial cancer in a Japanese population. Int. J. Cancer 102, 418\u2013421 (2002).","journal-title":"Int. J. Cancer"},{"key":"3978_CR25","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1023\/A:1022968303118","volume":"78","author":"D Tang","year":"2003","unstructured":"Tang, D. et al. Sulfotransferase 1A1 (SULT1A1) polymorphism, PAH-DNA adduct levels in breast tissue and breast cancer risk in a case-control study. Breast Cancer Res. Treat. 78, 217\u2013222 (2003).","journal-title":"Breast Cancer Res. Treat."},{"key":"3978_CR26","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.canlet.2005.12.025","volume":"245","author":"E Kellen","year":"2007","unstructured":"Kellen, E. et al. Does occupational exposure to PAHs, diesel and aromatic amines interact with smoking and metabolic genetic polymorphisms to increase the risk on bladder cancer?; The Belgian case control study on bladder cancer risk. Cancer Lett. 245, 51\u201360 (2007).","journal-title":"Cancer Lett."},{"key":"3978_CR27","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1089\/gtmb.2011.0131","volume":"16","author":"EP Khvostova","year":"2012","unstructured":"Khvostova, E. P., Pustylnyak, V. O. & Gulyaeva, L. F. Genetic polymorphism of estrogen metabolizing enzymes in Siberian women with breast cancer. Genet. Test. Mol. Biomark. 16, 167\u2013173 (2012).","journal-title":"Genet. Test. Mol. Biomark."},{"key":"3978_CR28","doi-asserted-by":"publisher","first-page":"1340","DOI":"10.1038\/sj.bjc.6604683","volume":"99","author":"A Kotnis","year":"2008","unstructured":"Kotnis, A., Kannan, S., Sarin, R. & Mulherkar, R. Case\u2013control study and meta-analysis of SULT1A1 Arg 213 His polymorphism for gene, ethnicity and environment interaction for cancer risk. Br. J. Cancer 99, 1340\u20131347 (2008).","journal-title":"Br. J. Cancer"},{"key":"3978_CR29","doi-asserted-by":"publisher","first-page":"688","DOI":"10.1089\/dna.2011.1403","volume":"31","author":"H Lee","year":"2012","unstructured":"Lee, H. et al. SULT1A1 Arg213His polymorphism, smoked meat, and breast cancer risk: a case\u2013control study and meta-analysis. DNA Cell Biol. 31, 688\u2013699 (2012).","journal-title":"DNA Cell Biol."},{"key":"3978_CR30","first-page":"4369","volume":"31","author":"I Dumas","year":"2011","unstructured":"Dumas, I. & Diorio, C. Estrogen pathway polymorphisms and mammographic density. Anticancer Res 31, 4369\u20134386 (2011).","journal-title":"Anticancer Res"},{"key":"3978_CR31","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1007\/978-0-387-69080-3_34","volume":"617","author":"LF Gulyaeva","year":"2008","unstructured":"Gulyaeva, L. F. et al. Comparative analysis of SNP in estrogen-metabolizing enzymes for ovarian, endometrial, and breast cancers in Novosibirsk, Russia. Adv. Exp. Med. Biol. 617, 359\u2013366 (2008).","journal-title":"Adv. Exp. Med. Biol."},{"key":"3978_CR32","doi-asserted-by":"publisher","first-page":"304","DOI":"10.3109\/07357900902744494","volume":"28","author":"VS Syamala","year":"2010","unstructured":"Syamala, V. S. et al. Possible risk modification by polymorphisms of estrogen metabolizing genes in familial breast cancer susceptibility in an Indian population. Cancer Invest 28, 304\u2013311 (2010).","journal-title":"Cancer Invest"},{"key":"3978_CR33","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1093\/hmg\/ddl468","volume":"16","author":"SJ Hebbring","year":"2007","unstructured":"Hebbring, S. J. et al. Human SULT1A1 gene: copy number differences and functional implications. Hum. Mol. Genet 16, 463\u2013470 (2007).","journal-title":"Hum. Mol. Genet"},{"key":"3978_CR34","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1016\/j.biocel.2006.10.002","volume":"39","author":"N Hempel","year":"2007","unstructured":"Hempel, N., Gamage, N., Martin, J. L. & McManus, M. E. Human cytosolic sulfotransferase SULT1A1. Int. J. Biochem. Cell Biol. 39, 685\u2013689 (2007).","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"3978_CR35","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1097\/01.fpc.0000166823.74378.79","volume":"15","author":"B Ning","year":"2005","unstructured":"Ning, B. et al. Common genetic polymorphisms in the 5\u2032-flanking region of the SULT1A1 gene: haplotypes and their association with platelet enzymatic activity. Pharmacogenet. Genomics 15, 465\u2013473 (2005).","journal-title":"Pharmacogenet. Genomics"},{"key":"3978_CR36","first-page":"19","volume":"6","author":"X Yu","year":"2013","unstructured":"Yu, X. et al. Copy number variation in sulfotransferase isoform 1A1 (SULT1A1) is significantly associated with enzymatic activity in Japanese subjects. Pharmacogenomics Pers. Med. 6, 19\u201324 (2013).","journal-title":"Pharmacogenomics Pers. Med."},{"key":"3978_CR37","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.jsbmb.2017.08.017","volume":"174","author":"J Liu","year":"2017","unstructured":"Liu, J. et al. Relationship of SULT1A1 copy number variation with estrogen metabolism and human health. J. Steroid Biochem. Mol. Biol. 174, 169\u2013175 (2017).","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"3978_CR38","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1093\/carcin\/bgt408","volume":"35","author":"K Herrmann","year":"2014","unstructured":"Herrmann, K. et al. Formation of hepatic DNA adducts by methyleugenol in mouse models: drastic decrease by Sult1a1 knockout and strong increase by transgenic human SULT1A1\/2. Carcinogenesis 35, 935\u2013941 (2014).","journal-title":"Carcinogenesis"},{"key":"3978_CR39","doi-asserted-by":"publisher","first-page":"2339","DOI":"10.1093\/carcin\/bgu152","volume":"35","author":"B Sachse","year":"2014","unstructured":"Sachse, B., Meinl, W., Glatt, H. & Monien, B. H. The effect of knockout of sulfotransferases 1a1 and 1d1 and of transgenic human sulfotransferases 1A1\/1A2 on the formation of DNA adducts from furfuryl alcohol in mouse models. Carcinogenesis 35, 2339\u20132345 (2014).","journal-title":"Carcinogenesis"},{"key":"3978_CR40","doi-asserted-by":"publisher","first-page":"3329","DOI":"10.1007\/s00204-017-1955-4","volume":"91","author":"R Tremmel","year":"2017","unstructured":"Tremmel, R. et al. Methyleugenol DNA adducts in human liver are associated with SULT1A1 copy number variations and expression levels. Arch. Toxicol. 91, 3329\u20133339 (2017).","journal-title":"Arch. Toxicol."},{"key":"3978_CR41","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1006\/bbrc.2000.3643","volume":"277","author":"TP Dooley","year":"2000","unstructured":"Dooley, T. P., Haldeman-Cahill, R., Joiner, J. & Wilborn, T. W. Expression profiling of human sulfotransferase and sulfatase gene superfamilies in epithelial tissues and cultured cells. Biochem. Biophys. Res. Commun. 277, 236\u2013245 (2000).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"3978_CR42","first-page":"1551","volume":"56","author":"JL Falany","year":"1996","unstructured":"Falany, J. L. & Falany, C. N. Expression of cytosolic sulfotransferases in normal mammary epithelial cells and breast cancer cell lines. Cancer Res 56, 1551\u20131555 (1996).","journal-title":"Cancer Res"},{"key":"3978_CR43","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1093\/molehr\/5.11.995","volume":"5","author":"GL Rubin","year":"1999","unstructured":"Rubin, G. L., Harrold, A. J., Mills, J. A., Falany, C. N. & Coughtrie, M. W. H. Regulation of sulphotransferase expression in the endometrium during the menstrual cycle, by oral contraceptives and during early pregnancy. Mol. Hum. Reprod. 5, 995\u20131002 (1999).","journal-title":"Mol. Hum. Reprod."},{"key":"3978_CR44","doi-asserted-by":"publisher","first-page":"5944","DOI":"10.1210\/jcem.86.12.8081","volume":"86","author":"EL Stanley","year":"2001","unstructured":"Stanley, E. L., Hume, R., Visser, T. J. & Coughtrie, M. W. H. Differential expression of sulfotransferase enzymes involved in thyroid hormone metabolism during human placental development. J. Clin. Endocrinol. Metab. 86, 5944\u20135955 (2001).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"3978_CR45","first-page":"92","volume":"1","author":"KE Mercer","year":"2010","unstructured":"Mercer, K. E. et al. Expression of sulfotransferase isoform 1A1 (SULT1A1) in breast cancer cells significantly increases 4-hydroxytamoxifen-induced apoptosis. Int. J. Mol. Epidemiol. Genet. 1, 92\u2013103 (2010).","journal-title":"Int. J. Mol. Epidemiol. Genet."},{"key":"3978_CR46","doi-asserted-by":"publisher","first-page":"2538","DOI":"10.1158\/0008-5472.CAN-09-2089","volume":"70","author":"MT Harte","year":"2010","unstructured":"Harte, M. T. et al. BRD7, a subunit of SWI\/SNF complexes, binds directly to BRCA1 and regulates BRCA1-dependent transcription. Cancer Res 70, 2538\u20132547 (2010).","journal-title":"Cancer Res"},{"key":"3978_CR47","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1006\/bbrc.2002.6658","volume":"292","author":"AA Adjei","year":"2002","unstructured":"Adjei, A. A. & Weinshilboum, R. M. Catecholestrogen sulfation: possible role in carcinogenesis. Biochem. Biophys. Res. Commun. 292, 402\u2013408 (2002).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"3978_CR48","first-page":"2269","volume":"58","author":"BT Zhu","year":"1998","unstructured":"Zhu, B. T. & Conney, A. H. Is 2-methoxyestradiol an endogenous estrogen metabolite that inhibits mammary carcinogenesis? Cancer Res 58, 2269\u20132277 (1998).","journal-title":"Cancer Res"},{"key":"3978_CR49","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1158\/1055-9965.EPI-06-0800","volume":"16","author":"TR Rebbeck","year":"2007","unstructured":"Rebbeck, T. R. et al. Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology. Cancer Epidemiol. Biomark. Prev. 16, 444\u2013450 (2007).","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"3978_CR50","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1007\/s10689-015-9785-0","volume":"14","author":"PA James","year":"2015","unstructured":"James, P. A. et al. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam. Cancer 14, 287\u2013295 (2015).","journal-title":"Fam. Cancer"},{"key":"3978_CR51","doi-asserted-by":"publisher","first-page":"1329","DOI":"10.1200\/JCO.2006.09.1066","volume":"25","author":"S Chen","year":"2007","unstructured":"Chen, S. & Parmigiani, G. Meta-analysis of BRCA1 and BRCA2 penetrance. J. Clin. Oncol. 25, 1329\u20131333 (2007).","journal-title":"J. Clin. Oncol."},{"key":"3978_CR52","doi-asserted-by":"publisher","first-page":"e31","DOI":"10.1136\/jmg.2004.027961","volume":"42","author":"AM Woodward","year":"2005","unstructured":"Woodward, A. M., Davis, T. A., Silva, A. G. S., Kirk, J. A. & Leary, J. A. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast\/ovarian cancer phenotype in selected families. J. Med. Genet. 42, e31\u2013e31 (2005).","journal-title":"J. Med. Genet."},{"key":"3978_CR53","doi-asserted-by":"publisher","DOI":"10.1186\/bcr1826","volume":"9","author":"PK Lovelock","year":"2007","unstructured":"Lovelock, P. K. et al. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res 9, R82 (2007).","journal-title":"Breast Cancer Res"},{"key":"3978_CR54","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1136\/jmedgenet-2012-101037","volume":"49","author":"AB Spurdle","year":"2012","unstructured":"Spurdle, A. B. et al. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J. Med. Genet. 49, 525\u2013532 (2012).","journal-title":"J. Med. Genet."},{"key":"3978_CR55","doi-asserted-by":"publisher","first-page":"1347","DOI":"10.1001\/jama.2014.5985","volume":"313","author":"TR Rebbeck","year":"2015","unstructured":"Rebbeck, T. R. et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313, 1347\u20131361 (2015).","journal-title":"JAMA"},{"key":"3978_CR56","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1158\/1055-9965.EPI-20-1319","volume":"30","author":"T Carver","year":"2021","unstructured":"Carver, T. et al. CanRisk Tool\u2014A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants. Cancer Epidemiol. Biomark. Prev. 30, 469\u2013473 (2021).","journal-title":"Cancer Epidemiol. Biomark. Prev."},{"key":"3978_CR57","doi-asserted-by":"publisher","first-page":"1774","DOI":"10.1093\/hmg\/ddu581","volume":"24","author":"NJ Cooper","year":"2015","unstructured":"Cooper, N. J. et al. Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Hum. Mol. Genet 24, 1774\u20131790 (2015).","journal-title":"Hum. Mol. Genet"},{"key":"3978_CR58","unstructured":"R Core Team. R: A Language and Environment for Statistical Computing (R Foundation for Statistical Computing, 2013)."},{"key":"3978_CR59","doi-asserted-by":"crossref","unstructured":"Wang, K. et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17, 1665\u20131674 (2007).","DOI":"10.1101\/gr.6861907"},{"key":"3978_CR60","doi-asserted-by":"publisher","first-page":"e1003118","DOI":"10.1371\/journal.pcbi.1003118","volume":"9","author":"M Lawrence","year":"2013","unstructured":"Lawrence, M. et al. Software for computing and annotating genomic ranges. PLoS Comput. Biol. 9, e1003118 (2013).","journal-title":"PLoS Comput. Biol."},{"key":"3978_CR61","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1002\/gepi.21620","volume":"36","author":"DR Barnes","year":"2012","unstructured":"Barnes, D. R. et al. Evaluation of association methods for analysing modifiers of disease risk in carriers of high-risk mutations. Genet. Epidemiol. 36, 274\u2013291 (2012).","journal-title":"Genet. Epidemiol."},{"key":"3978_CR62","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/gepi.20074","volume":"29","author":"AC Antoniou","year":"2005","unstructured":"Antoniou, A. C. et al. A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet. Epidemiol. 29, 1\u201311 (2005).","journal-title":"Genet. Epidemiol."},{"key":"3978_CR63","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows\u2013Wheeler transform. Bioinformatics 25, 1754\u20131760 (2009).","journal-title":"Bioinformatics"},{"key":"3978_CR64","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo, M. A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491\u2013498 (2011).","journal-title":"Nat. Genet."},{"key":"3978_CR65","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2014-15-6-r84","volume":"15","author":"RM Layer","year":"2014","unstructured":"Layer, R. M., Chiang, C., Quinlan, A. R. & Hall, I. M. LUMPY: a probabilistic framework for structural variant discovery. Genome Biol. 15, R84 (2014).","journal-title":"Genome Biol."},{"key":"3978_CR66","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1101\/gr.114876.110","volume":"21","author":"A Abyzov","year":"2011","unstructured":"Abyzov, A., Urban, A. E., Snyder, M. & Gerstein, M. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21, 974\u2013984 (2011).","journal-title":"Genome Res"},{"key":"3978_CR67","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1038\/nature11412","volume":"490","author":"Cancer Genome Atlas Network.","year":"2012","unstructured":"Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 490, 61\u201370 (2012).","journal-title":"Nature"},{"key":"3978_CR68","doi-asserted-by":"publisher","first-page":"pl1","DOI":"10.1126\/scisignal.2004088","volume":"6","author":"J Gao","year":"2013","unstructured":"Gao, J. et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci. Signal. 6, pl1 (2013).","journal-title":"Sci. Signal."},{"key":"3978_CR69","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2006-7-10-r100","volume":"7","author":"AE Carpenter","year":"2006","unstructured":"Carpenter, A. E. et al. CellProfiler: image analysis software for identifying and quantifying cell phenotypes. Genome Biol. 7, R100 (2006).","journal-title":"Genome Biol."}],"container-title":["Communications Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s42003-022-03978-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s42003-022-03978-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s42003-022-03978-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T17:14:03Z","timestamp":1665076443000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s42003-022-03978-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,6]]},"references-count":69,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["3978"],"URL":"https:\/\/doi.org\/10.1038\/s42003-022-03978-6","relation":{},"ISSN":["2399-3642"],"issn-type":[{"value":"2399-3642","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,6]]},"assertion":[{"value":"15 November 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2022","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":"1061"}}