{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T06:41:36Z","timestamp":1773211296570,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T00:00:00Z","timestamp":1723075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T00:00:00Z","timestamp":1723075200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathological germline variants (PGVs) of\n                    <jats:italic>RAD51D<\/jats:italic>\n                    increase the risk of breast and ovarian cancer. In East Asia, c.270_271dup is the most frequently detected PGV of\n                    <jats:italic>RAD51D<\/jats:italic>\n                    ; however, only a few cases have been reported in Japan. We report four cancer cases with a germline\n                    <jats:italic>RAD51D<\/jats:italic>\n                    c.270_271dup PGV. Three of them (lung cancer: 2, oral cancer: 1) were incidentally identified by whole genome sequencing in patients negative for the associated cancer histories, homologous recombination (HR) deficiency, or a second hit of\n                    <jats:italic>RAD51D<\/jats:italic>\n                    in the cancer DNA. For genetic counseling, we provided information on surveillance and cascade testing based on Western guidelines. The PGVs of moderate\u2010risk HR\u2010related genes are difficult to detect based on phenotype, especially in male\u2010predominant pedigrees. The current spread of cancer genomic analysis will increase opportunities for incidental variant identification. The establishment of Japanese guidelines is expected to aid in the management of PGV carriers of moderate\u2010risk genes.\n                  <\/jats:p>","DOI":"10.1111\/jog.16045","type":"journal-article","created":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T21:38:21Z","timestamp":1723153101000},"page":"1742-1747","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Four cancer cases with pathological germline variant\n                    <i>RAD51D<\/i>\n                    c.270_271dup"],"prefix":"10.1111","volume":"50","author":[{"given":"Eiko","family":"Ishihara","sequence":"first","affiliation":[{"name":"Division of Genetic Medicine Promotion Shizuoka Cancer Center  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7050-2351","authenticated-orcid":false,"given":"Hiroyuki","family":"Matsubayashi","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Promotion Shizuoka Cancer Center  Shizuoka Japan"},{"name":"Division of Endoscopy Shizuoka Cancer Center  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seiichiro","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Promotion Shizuoka Cancer Center  Shizuoka Japan"},{"name":"Division of Breast Surgery Shizuoka Cancer Center  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Isaka","sequence":"additional","affiliation":[{"name":"Division of Respiratory Surgery Shizuoka Cancer Center  Shizuoka 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