{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:18:06Z","timestamp":1787066286463,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:00:00Z","timestamp":1767916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:00:00Z","timestamp":1767916800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    This study aimed to characterize the spectrum of germline pathogenic and likely pathogenic variants in cancer susceptibility genes among Uruguayan patients with breast, ovarian, or prostate cancer (BC, OvC, PCa) who self\u2010funded multigene panel testing. We analyzed 119 unrelated adults (93\u2009\n                    <jats:sc>bc<\/jats:sc>\n                    , 12 OvC, 14 PCa) who underwent clinical germline testing using commercially available next\u2010generation sequencing panels (comprising both a 26 gene hereditary breast\/ovarian subset and a comprehensive 85\/90 gene panel). Variant classification followed international guidelines. Detection rates were calculated with 95% exact binomial confidence intervals. OvC and PCa cases were analyzed separately due to small sample sizes (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009&lt;\u200915). PGVs were found in 16\/119 patients (13.4%): 10.8% in BC (10\/93), 25% in OvC (3\/12), and 21.4% in PCa (3\/14).\n                    <jats:italic>BRCA1\/2<\/jats:italic>\n                    variants accounted for 25% of positive cases, while 61.5% involved non\u2010\n                    <jats:italic>BRCA<\/jats:italic>\n                    genes (\n                    <jats:italic>ATM, RAD51C, MUTYH<\/jats:italic>\n                    ). No recurrent founder mutations were detected, although\n                    <jats:italic>MUTYH<\/jats:italic>\n                    c.452A&gt;G was observed in multiple unrelated individuals. Variants of uncertain significance were identified in 57% of BC patients (53\/93), mostly missense variants in DNA repair genes. The mean age at diagnosis among PGV carriers was 50\u2009years (range 32\u201366). The germline mutational spectrum in Uruguayan cancer patients is diverse. Most PGVs were found in genes other than\n                    <jats:italic>BRCA1\/2<\/jats:italic>\n                    , supporting the use of MGPT for cancer risk assessment. Genetic testing should be considered for all cancer patients in Uruguay, regardless of ancestry or tumor type. Further research is needed to better understand the role of less\u2010characterized genes in BC, OvC, and PCa predisposition.\n                  <\/jats:p>","DOI":"10.1111\/cge.70138","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T17:05:32Z","timestamp":1767978332000},"page":"991-998","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-1696-6208","authenticated-orcid":false,"given":"Victoria","family":"Alzogaray","sequence":"first","affiliation":[{"name":"Laboratory ADN Uruguay  Montevideo Uruguay"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.25100\/cm.v53i1.4966"},{"key":"e_1_2_10_3_1","unstructured":"International Agency for Research on Cancer \u201cUruguay Fact Sheet \u201d2022 https:\/\/gco.iarc.who.int\/media\/globocan\/factsheets\/populations\/858\u2010uruguay\u2010fact\u2010sheet.pdf."},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.25100\/cm.v50i4.4212"},{"issue":"2","key":"e_1_2_10_5_1","first-page":"102","article-title":"C\u00e1ncer de Mama y Ovario Hereditario en Uruguay: Resultados Del Screening Para Mutaciones en Genes de Susceptibilidad Por Secuenciaci\u00f3n de Nueva Generaci\u00f3n","volume":"33","author":"Della Valle A.","year":"2019","journal-title":"Revista M\u00e9dica Del Uruguay"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/biomet\/26.4.404"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2020.08.042"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549\u2010023\u201007173\u2010x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201002671\u2010z"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers15174244"},{"issue":"3","key":"e_1_2_10_11_1","first-page":"421","article-title":"The Genetics of Familial Adenomatous Polyposis (FAP) and MutYH\u2010Associated Polyposis (MAP)","volume":"74","author":"Claes K.","year":"2011","journal-title":"Acta Gastro\u2010Enterologica Belgica"},{"key":"e_1_2_10_12_1","unstructured":"National Comprehensive Cancer Network \u201cGenetic\/Familial High\u2010Risk Assessment: Breast Ovarian and Pancreatic. Version 2.2024 \u201dhttps:\/\/www.nccn.org."},{"key":"e_1_2_10_13_1","unstructured":"Institute of Cancer Research UK \u201cTargeted Arm Against BRCA1\/BRCA2\/PALB2 Mutations (TARGET) \u201dClinicalTrials.gov identifier: NCT03148795 https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03148795."},{"key":"e_1_2_10_14_1","unstructured":"University of Texas MD Anderson Cancer Center \u201cATR Inhibitor BAY1895344 in Advanced Tumors With DNA Damage Response Deficiencies \u201dClinicalTrials.gov identifier: NCT03787680 https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03787680."},{"key":"e_1_2_10_15_1","unstructured":"National Cancer Institute \u201cPembrolizumab in Treating Patients With DNA Repair Gene Mutations \u201dClinicalTrials.gov identifier: NCT04265534 https:\/\/clinicaltrials.gov\/ct2\/show\/NCT04265534."},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010022\u201007383\u20101"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2019.01429"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2025.16372"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70138","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70138","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:47:04Z","timestamp":1778640424000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,9]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1111\/cge.70138"],"URL":"https:\/\/doi.org\/10.1111\/cge.70138","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,9]]},"assertion":[{"value":"2025-09-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}