{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T16:12:34Z","timestamp":1784823154138,"version":"3.55.0"},"reference-count":29,"publisher":"BMJ","issue":"8","license":[{"start":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T00:00:00Z","timestamp":1777420800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2026,4,16]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Current guidelines recommend consideration of germline genetic testing for patients with uterine serous carcinoma (USC) but real-world data are limited on completion rates of testing and pathogenic variant (PV) identification. This study aimed to evaluate the rate of genetic testing referral and completion in a cohort of patients with USC, determine the prevalence of clinically meaningful PVs found on testing and explore factors associated with genetics referral and testing completion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively examined the medical records of all individuals diagnosed with USC between 2019 and 2024 seen at a single academic cancer centre. Outcomes of interest included referral for germline genetic testing, completion of testing and testing results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 131 individuals included, 5 (3.8%) had prior genetic testing and only 45 (34.4%) were recommended to undergo genetic testing or referred to cancer genetics. Younger individuals and those with a personal history of cancer other than USC or family history of breast or ovarian cancer were more likely to be referred. Nine (26.5%) of 34 individuals who completed germline testing had a PV identified in a cancer-related gene, including\n                      <jats:italic>BRCA1<\/jats:italic>\n                      ,\n                      <jats:italic>BRCA2<\/jats:italic>\n                      ,\n                      <jats:italic>BRIP1<\/jats:italic>\n                      ,\n                      <jats:italic>CHEK2<\/jats:italic>\n                      ,\n                      <jats:italic>MSH6<\/jats:italic>\n                      ,\n                      <jats:italic>PMS2<\/jats:italic>\n                      and\n                      <jats:italic>ATM<\/jats:italic>\n                      . Only a personal history of cancer other than USC was independently associated with the discovery of a PV on germline genetic testing. In those without a prior personal history of cancer, the PV prevalence was 5.6%.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Given the high prevalence of PVs in this population, germline genetic testing for all patients diagnosed with USC can provide clinically meaningful benefit but is currently underused in practice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2025-111285","type":"journal-article","created":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T17:20:39Z","timestamp":1777483239000},"page":"537-542","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection"],"prefix":"10.1136","volume":"63","author":[{"given":"Lauren","family":"Tostrud","sequence":"first","affiliation":[{"name":"Department of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simge Bagci","family":"Turkmen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaqi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2887-4079","authenticated-orcid":false,"given":"Rachel","family":"Hodan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Medical Genetics), Stanford University, Palo Alto, California, USA"},{"name":"Cancer Genetics, Stanford Health Care, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Kingham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Medical Genetics), Stanford University, Palo Alto, California, USA"},{"name":"Cancer Genetics, Stanford Health Care, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Dorigo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James M","family":"Ford","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Medical Genetics), Stanford University, Palo Alto, California, USA"},{"name":"Cancer Genetics, Stanford Health Care, Palo Alto, California, USA"},{"name":"Department of Medicine (Oncology), Stanford University, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison W","family":"Kurian","sequence":"additional","affiliation":[{"name":"Department of Medicine (Oncology), Stanford University, Palo Alto, California, USA"},{"name":"Department of Epidemiology and Population Health, Stanford University, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6216-8501","authenticated-orcid":false,"given":"Talayeh S","family":"Ghezelayagh","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynecology, Stanford University, Palo Alto, California, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,4,29]]},"reference":[{"key":"2026072308352379000_63.8.537.1","doi-asserted-by":"publisher","DOI":"10.3322\/CAAC.21834"},{"key":"2026072308352379000_63.8.537.2","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1097\/CM9.0000000000002841","article-title":"Global and regional trends in the incidence and mortality burden of endometrial cancer, 1990-2019: Updated results from the Global Burden of Disease Study, 2019","volume":"137","author":"Feng","year":"2024","journal-title":"Chin Med J (Engl)"},{"key":"2026072308352379000_63.8.537.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2021.04.029"},{"key":"2026072308352379000_63.8.537.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2016.11.028"},{"key":"2026072308352379000_63.8.537.5","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djab036"},{"key":"2026072308352379000_63.8.537.6","doi-asserted-by":"publisher","DOI":"10.1111\/IGC.0b013e3181cd242f"},{"key":"2026072308352379000_63.8.537.7","doi-asserted-by":"crossref","unstructured":"Saule C , Mouret-Fourme E , Briaux A , et al . 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