{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T08:07:02Z","timestamp":1790323622994,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T00:00:00Z","timestamp":1789603200000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"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":["IJU Case Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Upper tract urothelial carcinoma (UTUC) is associated with Lynch syndrome; however, increasing evidence suggests broader genetic heterogeneity. Although multigene panel testing (MGPT) is increasingly adopted internationally, syndrome\u2010specific genetic testing (SSGT) remains predominant in Japan, potentially limiting detection of non\u2010Lynch hereditary variants. Appropriate selection for expanded germline evaluation remains challenging.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      A 41\u2010year\u2010old man with locally advanced UTUC underwent neoadjuvant chemotherapy followed by surgery. His family history included gastrointestinal and breast cancers and did not fit a single hereditary syndrome. Although SSGT was initially considered for Lynch syndrome, germline MGPT was performed after genetic counseling. MGPT identified a germline pathogenic\n                      <jats:italic>BRCA2<\/jats:italic>\n                      frameshift variant, with no mismatch repair gene variants detected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights the value of comprehensive germline evaluation in selected UTUC patients. Urologists should recognize atypical\/mixed family histories and consider early genetic referral. Selective MGPT may improve identification of clinically actionable germline variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/iju5.70268","type":"journal-article","created":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T09:03:18Z","timestamp":1789635798000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Germline\n                    <scp>\n                      <i>BRCA2<\/i>\n                    <\/scp>\n                    Pathogenic Variant Identified by Multigene Panel Testing in Upper Tract Urothelial Carcinoma"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8574-2932","authenticated-orcid":false,"given":"Kazuna","family":"Matsuo","sequence":"first","affiliation":[{"name":"Department of Urology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Zennami","sequence":"additional","affiliation":[{"name":"Department of Urology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mii","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Medical Genomics Center Nagoya University Hospital  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Hatakeyama","sequence":"additional","affiliation":[{"name":"Medical Genomics Center Nagoya University Hospital  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Morikawa","sequence":"additional","affiliation":[{"name":"Medical Genomics Center Nagoya University Hospital  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyosuke","family":"Hattori","sequence":"additional","affiliation":[{"name":"Department of Urology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shusuke","family":"Akamatsu","sequence":"additional","affiliation":[{"name":"Department of Urology Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,17]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.euo.2021.11.001"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2015.04.016"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/esmoopen\u20102018\u2010000344"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.19.01395"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.esmoop.2026.106900"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.esmoop.2024.103482"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2024.2185"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/iju.70100"}],"container-title":["IJU Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/iju5.70268","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/iju5.70268","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/iju5.70268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:42:39Z","timestamp":1790322159000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/iju5.70268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1002\/iju5.70268"],"URL":"https:\/\/doi.org\/10.1002\/iju5.70268","archive":["Portico"],"relation":{},"ISSN":["2577-171X","2577-171X"],"issn-type":[{"value":"2577-171X","type":"print"},{"value":"2577-171X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"2026-05-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70268"}}