{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T17:03:17Z","timestamp":1781629397842,"version":"3.54.5"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T00:00:00Z","timestamp":1765324800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"vor","delay-in-days":57,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100018925","name":"Health Commission of Henan Province","doi-asserted-by":"publisher","award":["SBGJ202103036"],"award-info":[{"award-number":["SBGJ202103036"]}],"id":[{"id":"10.13039\/100018925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018925","name":"Health Commission of Henan Province","doi-asserted-by":"publisher","award":["HNSWJW_2002007"],"award-info":[{"award-number":["HNSWJW_2002007"]}],"id":[{"id":"10.13039\/100018925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011447","name":"Science and Technology Department of Henan Province","doi-asserted-by":"publisher","award":["221100310100"],"award-info":[{"award-number":["221100310100"]}],"id":[{"id":"10.13039\/501100011447","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Ovarian Res"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pathogenic\/likely pathogenic variants (P\/LPVs) in DNA damage response (DDR) genes are known ovarian cancer (OC) risk factors, but gene-specific risk estimates in Han Chinese remain unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To accurately assess the risk associated with DDR genes in the Han Chinese population to facilitate personalized risk management and enhance clinical decision-making.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed next-generation sequencing of 45 DDR genes in 666\u00a0OC patients from Henan, China. Associations between P\/LPVs and clinical features were assessed using chi-squared tests. Variant frequencies were compared with population controls (gnomAD and ChinaMAP databases) to estimate gene-specific odds ratios (ORs) using Fisher\u2019s test.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In Henan Ovarian Cancer patients, the median disease onset age was 53 years (range: 24\u201381), with 7.7% diagnosed before 40. Most patients had advanced disease (56.5% Stage III, 18.9% Stage IV), and 75.8% had high-grade serous carcinoma (HGSC). P\/LPVs in\n                      <jats:italic>BRCA1\/2<\/jats:italic>\n                      were significantly associated with the HGSC subtype and a positive family history (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001 for both). Beyond\n                      <jats:italic>BRCA1<\/jats:italic>\n                      (OR\u2009=\u2009125.5\/146.1) and\n                      <jats:italic>BRCA2<\/jats:italic>\n                      (OR\u2009=\u200917.9\/20.2), significantly elevated ovarian cancer risks were observed for\n                      <jats:italic>RAD51D<\/jats:italic>\n                      ,\n                      <jats:italic>RAD51C<\/jats:italic>\n                      , and\n                      <jats:italic>MSH2<\/jats:italic>\n                      (OR: 10.1\u201335.4, all\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.05).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study provides the first gene-specific ovarian cancer risk estimates for DDR genes in Han Chinese, expanding the high-risk gene spectrum. By defining population-specific risk magnitudes, our findings provide a framework for clinical risk stratification, and underscore the need to tailor screening and prevention strategies to China\u2019s distinct genetic landscape.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13048-025-01925-7","type":"journal-article","created":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T10:37:15Z","timestamp":1765363035000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mutational landscape and risk estimates of DDR genes in Chinese ovarian cancer patients"],"prefix":"10.1186","volume":"19","author":[{"given":"Cuiyun","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Xue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingxin","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lanwei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingjie","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junli","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuping","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziqing","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaas","family":"Kok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongjun","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,10]]},"reference":[{"issue":"14","key":"1925_CR1","doi-asserted-by":"publisher","first-page":"23862","DOI":"10.18632\/oncotarget.13317","volume":"8","author":"W Wei","year":"2016","unstructured":"Wei W, Li N, Sun Y, Li B, Xu L, Wu L. Clinical outcome and prognostic factors of patients with early-stage epithelial ovarian cancer. Oncotarget. 2017;8(14):23862\u201370.","journal-title":"Oncotarget"},{"issue":"9S Suppl 5","key":"1925_CR2","doi-asserted-by":"publisher","first-page":"S20","DOI":"10.1097\/IGC.0000000000001118","volume":"27","author":"J Chien","year":"2017","unstructured":"Chien J, Poole EM. Ovarian cancer prevention, screening, and early detection: report from the 11th biennial ovarian cancer research symposium. Int J Gynecol Cancer. 2017;27(9S Suppl 5):S20\u20132.","journal-title":"Int J Gynecol Cancer"},{"issue":"3","key":"1925_CR3","first-page":"229","volume":"74","author":"F Bray","year":"2024","unstructured":"Bray F, Laversanne M, Sung H, Ferlay J, Siegel RL, Soerjomataram I, et al. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2024;74(3):229\u201363.","journal-title":"CA Cancer J Clin"},{"issue":"1","key":"1925_CR4","first-page":"47","volume":"4","author":"B Han","year":"2024","unstructured":"Han B, Zheng R, Zeng H, Wang S, Sun K, Chen R, et al. Cancer incidence and mortality in China, 2022. J Natl Cancer Cent. 2024;4(1):47\u201353.","journal-title":"J Natl Cancer Cent"},{"issue":"10290","key":"1925_CR5","doi-asserted-by":"publisher","first-page":"2182","DOI":"10.1016\/S0140-6736(21)00731-5","volume":"397","author":"U Menon","year":"2021","unstructured":"Menon U, Gentry-Maharaj A, Burnell M, Singh N, Ryan A, Karpinskyj C, et al. Ovarian cancer population screening and mortality after long-term follow-up in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial. Lancet. 2021;397(10290):2182\u201393.","journal-title":"Lancet"},{"issue":"23","key":"1925_CR6","doi-asserted-by":"publisher","first-page":"2402","DOI":"10.1001\/jama.2017.7112","volume":"317","author":"KB Kuchenbaecker","year":"2017","unstructured":"Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402\u201316.","journal-title":"JAMA"},{"issue":"11","key":"1925_CR7","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 Oncology: Official J Am Soc Clin Oncol. 2007;25(11):1329\u201333.","journal-title":"J Clin Oncology: Official J Am Soc Clin Oncol"},{"issue":"Supplementum2","key":"1925_CR8","first-page":"72","volume":"32","author":"J Soukupov\u00e1","year":"2019","unstructured":"Soukupov\u00e1 J, Lhotov\u00e1 K, Zem\u00e1nkov\u00e1 P, Vo\u010dka M, Janatov\u00e1 M, Stola\u0159ov\u00e1 L, et al. Contribution of massive parallel sequencing to diagnosis of hereditary ovarian cancer in the Czech Republic. Klin Onkol. 2019;32(Supplementum2):72\u20138.","journal-title":"Klin Onkol"},{"issue":"11","key":"1925_CR9","doi-asserted-by":"publisher","first-page":"1803","DOI":"10.1136\/ijgc-2020-001556","volume":"30","author":"A Pietragalla","year":"2020","unstructured":"Pietragalla A, Arcieri M, Marchetti C, Scambia G, Fagotti A. Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes. Int J Gynecol Cancer: Official J Int Gynecol Cancer Soc. 2020;30(11):1803\u201310.","journal-title":"Int J Gynecol Cancer: Official J Int Gynecol Cancer Soc"},{"issue":"3","key":"1925_CR10","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1200\/OP.21.00382","volume":"18","author":"YL Liu","year":"2022","unstructured":"Liu YL, Breen K, Catchings A, Ranganathan M, Latham A, Goldfrank DJ, et al. Risk-reducing bilateral salpingo-oophorectomy for ovarian cancer: a review and clinical guide for hereditary predisposition genes. JCO Oncol Pract. 2022;18(3):201\u20139.","journal-title":"JCO Oncol Pract"},{"key":"1925_CR11","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2021.655709","volume":"11","author":"J Li","year":"2021","unstructured":"Li J, Han S, Zhang C, Luo Y, Wang L, Wang P, et al. Identification of BRCA1:c.5470_5477del as a founder mutation in Chinese ovarian cancer patients. Front Oncol. 2021;11:655709.","journal-title":"Front Oncol"},{"key":"1925_CR12","unstructured":"Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. Genomics. 2013."},{"issue":"16","key":"1925_CR13","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment\/map format and samtools. Bioinformatics. 2009;25(16):2078\u20139.","journal-title":"Bioinformatics"},{"issue":"12","key":"1925_CR14","doi-asserted-by":"publisher","first-page":"2032","DOI":"10.1093\/bioinformatics\/btv098","volume":"31","author":"A Tarasov","year":"2015","unstructured":"Tarasov A, Vilella AJ, Cuppen E, Nijman IJ, Prins P. Sambamba: fast processing of NGS alignment formats. Bioinformatics. 2015;31(12):2032\u20134.","journal-title":"Bioinformatics"},{"key":"1925_CR15","doi-asserted-by":"crossref","unstructured":"Poplin R, Ruano-Rubio V, DePristo MA, Fennell TJ, Carneiro MO, Van der Auwera GA et al. Scaling accurate genetic variant discovery to tens of thousands of samples. 2018.","DOI":"10.1101\/201178"},{"key":"1925_CR16","unstructured":"Garrison E, Marth G. Haplotype-based variant detection from short-read sequencing. 2012."},{"issue":"2","key":"1925_CR17","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, snpeff: SNPs in the genome of drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6(2):80\u201392.","journal-title":"Fly (Austin)"},{"issue":"7993","key":"1925_CR18","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","volume":"625","author":"S Chen","year":"2024","unstructured":"Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625(7993):92\u2013100.","journal-title":"Nature"},{"issue":"9","key":"1925_CR19","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/s41422-020-0322-9","volume":"30","author":"Y Cao","year":"2020","unstructured":"Cao Y, Li L, Xu M, Feng Z, Sun X, Lu J, et al. The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. Cell Res. 2020;30(9):717\u201331.","journal-title":"Cell Res"},{"key":"1925_CR20","doi-asserted-by":"publisher","first-page":"812656","DOI":"10.3389\/fonc.2021.812656","volume":"11","author":"J Li","year":"2021","unstructured":"Li J, Wang P, Zhang C, Han S, Xiao H, Liu Z, et al. Characterization of synonymous BRCA1:c.132C\u2009>\u2009T as a pathogenic variant. Front Oncol. 2021;11:812656.","journal-title":"Front Oncol"},{"issue":"10","key":"1925_CR21","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0186043","volume":"12","author":"P Harter","year":"2017","unstructured":"Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marme F, et al. Prevalence of deleterious germline variants in risk genes including BRCA1\/2 in consecutive ovarian cancer patients (AGO-TR-1). PLoS One. 2017;12(10):e0186043.","journal-title":"PLoS One"},{"issue":"4","key":"1925_CR22","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1001\/jamaoncol.2015.5495","volume":"2","author":"BM Norquist","year":"2016","unstructured":"Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, et al. Inherited mutations in women with ovarian carcinoma. JAMA Oncol. 2016;2(4):482\u201390.","journal-title":"JAMA Oncol"},{"issue":"3","key":"1925_CR23","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1158\/1078-0432.CCR-13-2287","volume":"20","author":"KP Pennington","year":"2014","unstructured":"Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res. 2014;20(3):764\u201375.","journal-title":"Clin Cancer Res"},{"issue":"1","key":"1925_CR24","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/j.ygyno.2021.10.072","volume":"164","author":"VM Witjes","year":"2022","unstructured":"Witjes VM, van Bommel MHD, Ligtenberg MJL, Vos JR, Mourits MJE, Ausems M, et al. Probability of detecting germline BRCA1\/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis. Gynecol Oncol. 2022;164(1):221\u201330.","journal-title":"Gynecol Oncol"},{"issue":"1","key":"1925_CR25","doi-asserted-by":"publisher","first-page":"4995","DOI":"10.1038\/s41467-020-18819-5","volume":"11","author":"RL Hollis","year":"2020","unstructured":"Hollis RL, Thomson JP, Stanley B, Churchman M, Meynert AM, Rye T, et al. Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome. Nat Commun. 2020;11(1):4995.","journal-title":"Nat Commun"},{"issue":"2","key":"1925_CR26","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1016\/j.ygyno.2013.12.003","volume":"132","author":"X Xiao","year":"2014","unstructured":"Xiao X, Melton DW, Gourley C. Mismatch repair deficiency in ovarian cancer -- molecular characteristics and clinical implications. Gynecol Oncol. 2014;132(2):506\u201312.","journal-title":"Gynecol Oncol"},{"issue":"2","key":"1925_CR27","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1016\/j.ygyno.2011.01.020","volume":"121","author":"S Zhang","year":"2011","unstructured":"Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, et al. Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol. 2011;121(2):353\u20137.","journal-title":"Gynecol Oncol"},{"issue":"1","key":"1925_CR28","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1186\/s12885-020-6693-y","volume":"20","author":"KJ Eoh","year":"2020","unstructured":"Eoh KJ, Kim HM, Lee JY, Kim S, Kim SW, Kim YT, et al. Mutation landscape of germline and somatic BRCA1\/2 in patients with high-grade serous ovarian cancer. BMC Cancer. 2020;20(1):204.","journal-title":"BMC Cancer"},{"issue":"9","key":"1925_CR29","doi-asserted-by":"publisher","first-page":"2051","DOI":"10.1002\/ijc.30633","volume":"140","author":"T Shi","year":"2017","unstructured":"Shi T, Wang P, Xie C, Yin S, Shi D, Wei C, et al. BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic\u2010related mutations in BRCA1 associated with an increased risk of ovarian cancer. Int J Cancer. 2017;140(9):2051\u20139.","journal-title":"Int J Cancer"},{"issue":"1","key":"1925_CR30","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.ygyno.2018.07.024","volume":"151","author":"A Li","year":"2018","unstructured":"Li A, Xie R, Zhi Q, Deng Y, Wu Y, Li W, et al. BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. Gynecol Oncol. 2018;151(1):145\u201352.","journal-title":"Gynecol Oncol"},{"issue":"7","key":"1925_CR31","doi-asserted-by":"publisher","first-page":"e2326437","DOI":"10.1001\/jamanetworkopen.2023.26437","volume":"6","author":"H Wen","year":"2023","unstructured":"Wen H, Xu Q, Sheng X, Li H, Wang X, Wu X. Prevalence and landscape of pathogenic or likely pathogenic germline variants and their association with somatic phenotype in unselected Chinese patients with gynecologic cancers. JAMA Netw Open. 2023;6(7):e2326437.","journal-title":"JAMA Netw Open"},{"issue":"8","key":"1925_CR32","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1097\/IGC.0000000000001065","volume":"27","author":"X Wu","year":"2017","unstructured":"Wu X, Wu L, Kong B, Liu J, Yin R, Wen H, et al. The first nationwide multicenter prevalence study of germline BRCA1 and BRCA2 mutations in Chinese ovarian cancer patients. Int J Gynecol Cancer. 2017;27(8):1650\u20137.","journal-title":"Int J Gynecol Cancer"},{"issue":"11","key":"1925_CR33","doi-asserted-by":"publisher","first-page":"3044","DOI":"10.1002\/ijc.32877","volume":"146","author":"H Meng","year":"2020","unstructured":"Meng H, Yao L, Yuan H, Xu Y, Ouyang T, Li J, et al. <article-title update=\"added\">BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients. Int J Cancer. 2020;146(11):3044\u201352.","journal-title":"Int J Cancer"},{"issue":"2","key":"1925_CR34","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1136\/ijgc-2022-003893","volume":"33","author":"C Marchetti","year":"2023","unstructured":"Marchetti C, Ataseven B, Cassani C, Sassu CM, Congedo L, D\u2019Indinosante M, et al. Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients. Int J Gynecol Cancer. 2023;33(2):257\u201362.","journal-title":"Int J Gynecol Cancer"},{"issue":"1","key":"1925_CR35","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.ygyno.2018.05.011","volume":"150","author":"J Kotsopoulos","year":"2018","unstructured":"Kotsopoulos J, Gronwald J, Karlan B, Rosen B, Huzarski T, Moller P, et al. Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation. Gynecol Oncol. 2018;150(1):85\u201391.","journal-title":"Gynecol Oncol"},{"issue":"11","key":"1925_CR36","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1038\/sj.ejhg.5200880","volume":"10","author":"E Dagan","year":"2002","unstructured":"Dagan E, Friedman E, Paperna T, Carmi N, Gershoni-Baruch R. Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1\/2 mutation carriers: association with breast\/ovarian cancer phenotype. Eur J Hum Genetics: EJHG. 2002;10(11):724\u20138.","journal-title":"Eur J Hum Genetics: EJHG"},{"issue":"3","key":"1925_CR37","first-page":"908","volume":"61","author":"DA Levine","year":"2001","unstructured":"Levine DA, Boyd J. The androgen receptor and genetic susceptibility to ovarian cancer: results from a case series. Cancer Res. 2001;61(3):908\u201311.","journal-title":"Cancer Res"},{"issue":"5","key":"1925_CR38","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1002\/1097-0215(20000901)87:5<637::AID-IJC3>3.0.CO;2-R","volume":"87","author":"AB Spurdle","year":"2000","unstructured":"Spurdle AB, Webb PM, Chen X, Martin NG, Giles GG, Hopper JL, et al. Androgen receptor exon 1 CAG repeat length and risk of ovarian cancer. Int J Cancer. 2000;87(5):637\u201343.","journal-title":"Int J Cancer"},{"issue":"1","key":"1925_CR39","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/S0304-3835(01)00473-6","volume":"168","author":"C Menin","year":"2001","unstructured":"Menin C, Banna GL, De Salvo G, Lazzarotto V, De Nicolo A, Agata S, et al. Lack of association between androgen receptor CAG polymorphism and familial breast\/ovarian cancer. Cancer Lett. 2001;168(1):31\u20136.","journal-title":"Cancer Lett"},{"issue":"10","key":"1925_CR40","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101230","volume":"26","author":"RD Morgan","year":"2024","unstructured":"Morgan RD, Burghel GJ, Flaum N, Schlecht H, Clamp AR, Hasan J, et al. Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene. Genet Med. 2024;26(10):101230.","journal-title":"Genet Med"},{"issue":"9","key":"1925_CR41","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1038\/s41588-023-01466-z","volume":"55","author":"N Wilcox","year":"2023","unstructured":"Wilcox N, Dumont M, Gonzalez-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, et al. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. Nat Genet. 2023;55(9):1435\u20139.","journal-title":"Nat Genet"},{"issue":"5","key":"1925_CR42","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1056\/NEJMoa1913948","volume":"384","author":"C Breast Cancer Association","year":"2021","unstructured":"Breast Cancer Association C, Dorling L, Carvalho S, Allen J, Gonzalez-Neira A, Luccarini C, et al. Breast cancer risk genes - association analysis in more than 113,000 women. N Engl J Med. 2021;384(5):428\u201339.","journal-title":"N Engl J Med"},{"issue":"1","key":"1925_CR43","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1001\/jamaoncol.2018.2956","volume":"5","author":"HM Lu","year":"2019","unstructured":"Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, et al. Association of breast and ovarian cancers with predisposition genes identified by large-scale sequencing. JAMA Oncol. 2019;5(1):51\u20137.","journal-title":"JAMA Oncol"},{"issue":"1","key":"1925_CR44","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1186\/s13048-020-00654-3","volume":"13","author":"M Suszynska","year":"2020","unstructured":"Suszynska M, Ratajska M, Kozlowski P. BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~\u200930,000 cases. J Ovarian Res. 2020;13(1):50.","journal-title":"J Ovarian Res"},{"issue":"5","key":"1925_CR45","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1136\/jmedgenet-2019-106739","volume":"58","author":"H Song","year":"2021","unstructured":"Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, et al. Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer. J Med Genet. 2021;58(5):305\u201313.","journal-title":"J Med Genet"},{"issue":"24","key":"1925_CR46","first-page":"1243","volume":"48","author":"CA-CAFITP Committee","year":"2021","unstructured":"Committee CA-CAFITP. Chinese expert consensus on clinical diagnosis and treatment of Familial inherited tumors (2021 Edition) (2)\u2014Family inherited ovarian cancer. Chin J Clin Oncol. 2021;48(24):1243\u20137.","journal-title":"Chin J Clin Oncol"},{"issue":"11","key":"1925_CR47","first-page":"1041","volume":"33","author":"Collaborative Group on Genetic Counseling for Gynecologic Oncology of the Alliance of Tertiary Obstetrics and Gynecology Hospitals\/Women and Children\u2019s Health Hospitals in China ea","year":"2023","unstructured":"Collaborative Group on Genetic Counseling for Gynecologic Oncology of the Alliance of Tertiary Obstetrics and Gynecology Hospitals\/Women and Children\u2019s Health Hospitals in China ea. Expert consensus on genetic counseling for gynecologic oncology (2023 Edition). China Oncol. 2023;33(11):1041\u201364.","journal-title":"China Oncol"},{"issue":"2","key":"1925_CR48","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1136\/jmedgenet-2018-105606","volume":"56","author":"G Montalban","year":"2019","unstructured":"Montalban G, Bonache S, Moles-Fernandez A, Gisbert-Beamud A, Tenes A, Bach V, et al. Screening of BRCA1\/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast\/ovarian cancer. J Med Genet. 2019;56(2):63\u201374.","journal-title":"J Med Genet"},{"key":"1925_CR49","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.898916","volume":"12","author":"D Hua","year":"2022","unstructured":"Hua D, Tian Q, Wang X, Bei T, Cui L, Zhang B, et al. Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients. Front Oncol. 2022;12:898916.","journal-title":"Front Oncol"}],"container-title":["Journal of Ovarian Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13048-025-01925-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13048-025-01925-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13048-025-01925-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T16:23:19Z","timestamp":1781626999000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13048-025-01925-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,10]]},"references-count":49,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["1925"],"URL":"https:\/\/doi.org\/10.1186\/s13048-025-01925-7","relation":{},"ISSN":["1757-2215"],"issn-type":[{"value":"1757-2215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,10]]},"assertion":[{"value":"2 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 December 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All authors give their consent for submission to this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"49"}}