{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T13:19:27Z","timestamp":1763644767210,"version":"3.45.0"},"reference-count":130,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["npj Genom. Med."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We meta-analyzed &gt;22 million variants for 398,238 women from the Ovarian Cancer Association Consortium (OCAC), UK Biobank (UKBB) and Consortium of Investigators of Modifiers of\n                    <jats:italic>BRCA1<\/jats:italic>\n                    \/\n                    <jats:italic>BRCA2<\/jats:italic>\n                    (CIMBA) to identify novel HGSOC susceptibility loci. Eight novel variants were associated with HGSOC risk. An interesting discovery biologically was\n                    <jats:italic>TP53<\/jats:italic>\n                    3\u2019-UTR SNP rs78378222-T\u2019s association with HGSOC (per-T-allele relative risk (RR)\u2009=\u20091.44, 95% CI:1.28\u20131.62,\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20091.76\u2009\u00d7\u200910\n                    <jats:sup>\u22129<\/jats:sup>\n                    ). Polygenic scores (PGS) were developed using OCAC and CIMBA data and trained on FinnGen data. The optimal PGS included 64,518 variants and was associated with an odds ratio of 1.46 (95% CI:1.37\u20131.54) per standard deviation when validated in the UKBB. This study represents the largest HGSOC GWAS to date \u2013 demonstrating that improvements in imputation reference panels and increased sample sizes help to identify HGSOC associated variants that previously went undetected, ultimately improving PGS which can improve personalized HGSOC risk prediction.\n                  <\/jats:p>","DOI":"10.1038\/s41525-025-00529-w","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:03:39Z","timestamp":1763640219000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer"],"prefix":"10.1038","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3781-7570","authenticated-orcid":false,"given":"Daniel R.","family":"Barnes","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3724-4757","authenticated-orcid":false,"given":"Jonathan P.","family":"Tyrer","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4591-1214","authenticated-orcid":false,"given":"Joe","family":"Dennis","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\/0000-0002-4351-9326","authenticated-orcid":false,"given":"Manjeet K.","family":"Bolla","sequence":"additional","affiliation":[]},{"given":"Michael","family":"Lush","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8907-7853","authenticated-orcid":false,"given":"Amber M.","family":"Aeilts","sequence":"additional","affiliation":[]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[]},{"given":"Nadine","family":"Andrieu","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4226-6435","authenticated-orcid":false,"given":"Irene L.","family":"Andrulis","sequence":"additional","affiliation":[]},{"given":"Hoda","family":"Anton-Culver","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0480-886X","authenticated-orcid":false,"given":"Adalgeir","family":"Arason","sequence":"additional","affiliation":[]},{"given":"Banu K.","family":"Arun","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0762-6415","authenticated-orcid":false,"given":"Judith","family":"Balma\u00f1a","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8789-2755","authenticated-orcid":false,"given":"Elisa V.","family":"Bandera","sequence":"additional","affiliation":[]},{"given":"Rosa B.","family":"Barkardottir","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3185-559X","authenticated-orcid":false,"given":"Lieke P. 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She is faculty member the Gynaecological Cancers group, European Society of Medical Oncology (ESMO) external expert in gynecologic oncology for the Norwegian National Expert Panel for Persons with Serious Life-Shortening Diseases and Member of the national specialist group in oncology, Sykehusinnkj\u00f8p HF as well as board member for KinN Therapeutics Bergen - a biopharmaceutical company focused on tailored preclinical oncology services for the development of novel anticancer compounds. A.d. has received research support from AstraZeneca and Illumina, and speakers fee from AstraZeneca. A.G.-M. has received research funding for my role, has been funded by grants from the Medical Research Council (MRC), Cancer Research UK (CRUK), National Institute for Health Research (NIHR) and The Eve Appeal, has funded research collaborations with industry - iLOF (intelligent Lab on Fiber), RNA Guardian, Micronoma and Mercy BioAnalytics, has research collaborations with academic institutions: University of Cambridge, QIMR Berghofer Medical Research Institute, Imperial College London, University of Innsbruck and Dana Farber USA, is a Co-Director Research Domain Trials, and has consultancy arrangement with Mercy BioAnalytics. F.H. has received personal fees and is on advisory boards of NovoCure, PharmaMar, AstraZeneca, Roche, Tesaro, GSK, Zailabs, Abbvie, MSD. A.E.T. has received grant funding through the National Institutes of Health and has study section membership for the National Institutes of Health. P.M.W. has received grant funding from AstraZeneca (06\/2017-03\/2021) for an unrelated study of ovarian cancer. D.F.E. and A.C.A. are listed as creators of the BOADICEA model which has been licensed by Cambridge Enterprise (University of Cambridge) for commercial purposes.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"73"}}