{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T17:44:54Z","timestamp":1785433494604,"version":"3.56.0"},"reference-count":45,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T00:00:00Z","timestamp":1781827200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Cancer Center (NCC) and the Ministry of Health & Welfare","award":["HA21C0211"],"award-info":[{"award-number":["HA21C0211"]}]},{"DOI":"10.13039\/501100003725","name":"The National Research Foundation of Korea","doi-asserted-by":"crossref","award":["RS-2025-24873317"],"award-info":[{"award-number":["RS-2025-24873317"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"award":["RS-2025-24873317"],"award-info":[{"award-number":["RS-2025-24873317"]}],"id":[{"id":"https:\/\/ror.org\/013aysd81","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>While ovarian cancer screening is not recommended in the general population, attention has shifted to screening women with elevated hereditary risks. Although germline BRCA 1\/2 pathogenic variants account for 40% of inherited ovarian cancer risk and family history (FH) remains important, known germline variants alone do not fully explain familial ovarian cancer risk. Whole-exome sequencing (WES) was performed on blood samples taken from 231 individuals, including 39 patients with high-grade serous ovarian cancer (HGSOC) and 192 healthy controls (HCs) stratified by FH. We analyzed pathogenic or likely pathogenic (P\/LP) germline variants in cancer-related genes and assessed their association with family cancer history. Additionally, we performed somatic variant comparisons using 1:4 propensity score matching and analyzed clonal hematopoiesis of indeterminate potential (CHIP)-related somatic variants. P\/LP germline variants were detected in 56.4% of HGSOC patients, 49.4% of controls with FH, and 33.3% without. The HGSOC group and controls with FH exhibited similar P\/LP germline mutation patterns in ovarian cancer-related genes. From CHIP analysis, somatic CHIP mutations were detected in 6.3% of the HGSOC group and 8.5% in HCs. Our findings demonstrate genomic overlap between ovarian cancer patients and FH-positive individuals. Therefore, germline variant screening could be considered to facilitate early diagnosis.<\/jats:p>","DOI":"10.3390\/ijms27125564","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T03:09:17Z","timestamp":1782270557000},"page":"5564","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Comprehensive Germline Profiling of High-Grade Serous Ovarian Cancer Using Whole-Exome Sequencing"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-3426-7143","authenticated-orcid":false,"given":"Hye-Lim","family":"Cho","sequence":"first","affiliation":[{"name":"Division of Life Sciences, College of Life Sciences and Bioengineering, Incheon National University, Incheon 22014, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8497-3998","authenticated-orcid":false,"given":"Seong Eun","family":"Bak","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Bucheon St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mi-Ryung","family":"Han","sequence":"additional","affiliation":[{"name":"Division of Life Sciences, College of Life Sciences and Bioengineering, Incheon National University, Incheon 22014, Republic of Korea"},{"name":"Institute for New Drug Development, College of Life Science and Bioengineering, Incheon National University, Incheon 22014, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4699-2116","authenticated-orcid":false,"given":"Youn Jin","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Seoul St. Mary\u2019s Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"},{"name":"Cancer Research Institute, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,19]]},"reference":[{"key":"ref_1","first-page":"229","article-title":"Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries","volume":"74","author":"Bray","year":"2024","journal-title":"CA Cancer J. 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