{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T09:32:45Z","timestamp":1740130365745,"version":"3.37.3"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Attenuated familial adenomatous polyposis, which accounts for ~10% of familial adenomatous polyposis, is difficult to diagnose because of its milder course and later onset. In both familial adenomatous polyposis and attenuated familial adenomatous polyposis, duodenal cancer is usually recognized 10\u201320\u00a0years after the diagnosis of colonic polyposis. We present herein a 66-year-old man who received pancreaticoduodenectomy due to ampullary carcinoma 17\u00a0years before onset of colonic polyposis. He then received extended right hemicolectoy for ascending colon cancer and \u2053100 polyps located from ceacum to splenic flexure of colon 2\u00a0years ago. The patient received Adenomatous polyposis coli (APC) genetic testing and detected a germline pathogenic frameshift variant in the APC gene (NM_000038.6:c.4875delA, ClinVar variant ID (127299)). The variant is classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. APC genetic testing was subsequently performed on his younger children (30 and 26\u00a0year old) and they found a same frameshift variant as his father. They were not detected any colonic polyposis by colonoscopy. This is a rare case report of attenuated familial adenomatous polyposis that diagnosed with gastric and colon polyposis &amp;gt;10\u00a0years after the diagnosis of ampullary carcinoma and the first report of genetic diagnosis of an attenuated familial adenomatous polyposis variant in young relatives before the onset of the disease.<\/jats:p>","DOI":"10.1093\/jjco\/hyad065","type":"journal-article","created":{"date-parts":[[2023,6,16]],"date-time":"2023-06-16T08:57:09Z","timestamp":1686905829000},"page":"866-869","source":"Crossref","is-referenced-by-count":0,"title":["A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers"],"prefix":"10.1093","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9791-7741","authenticated-orcid":false,"given":"Hiromichi","family":"Sonoda","sequence":"first","affiliation":[{"name":"Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School , Tokyo , Japan"},{"name":"Department of Genetic Medicine, Nippon Medical School , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School , Tokyo , Japan"},{"name":"Department of Genetic Medicine, Nippon Medical School , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuro","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Nippon Medical School , Tokyo , Japan"},{"name":"Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center , Bunkyo-ku, Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetaka","family":"Eguchi","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases , Intractable Disease Research Center, Graduate School of Medicine, , Bunkyo-ku, Tokyo , Japan"},{"name":"Juntendo University , Intractable Disease Research Center, Graduate School of Medicine, , Bunkyo-ku, Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases , Intractable Disease Research Center, Graduate School of Medicine, , Bunkyo-ku, Tokyo , Japan"},{"name":"Juntendo University , Intractable Disease Research Center, Graduate School of Medicine, , Bunkyo-ku, Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideyuki","family":"Ishida","sequence":"additional","affiliation":[{"name":"Department of Digestive Tract and General Surgery , Saitama Medical Center, , Saitama , Japan"},{"name":"Saitama Medical University , Saitama Medical Center, , Saitama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,6,15]]},"reference":[{"key":"2023090116054164500_ref1","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1023\/A:1023286520725","article-title":"Attenuated familial sdenomatous polyposis (AFAP). 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