{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T10:12:40Z","timestamp":1773655960157,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T00:00:00Z","timestamp":1537920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Familial adenomatous polyposis (FAP) is a familial colorectal cancer predisposition syndrome characterized by the development of numerous colorectal polyps, which is inherited in an autosomal dominant manner. FAP is caused by germ line mutations in adenomatous polyposis coli (<jats:italic>APC<\/jats:italic>) gene. Here, we described the identification of a causative <jats:italic>APC<\/jats:italic> gene deletion associated with FAP in an Iranian family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Diagnosis of FAP was based on clinical findings, family history, and medical records (colonoscopy and histopathological data) after the patients were referred to Reza Radiotherapy and Oncology Center, Iran, for colonoscopy. Blood samples were collected, and genomic DNA was extracted. <jats:italic>APC<\/jats:italic> mutation screening was conducted by target next\u2010generation sequencing and quantitative real\u2010time PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous large deletion mutation, c.(135+1_136\u20131)_(*2113+1_*2114\u20131) spanning exon 3 to 16 [EX3_16 DEL] of <jats:italic>APC<\/jats:italic> gene (GenBank Accession# MG712911), was detected in a proband and all her affected relatives in five generations, which was absent in unaffected family members and normal controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This novel deletion is the first report, describing the largest deletion of <jats:italic>APC<\/jats:italic> gene. Our novel finding contributes to a more comprehensive database of germ line mutations of <jats:italic>APC<\/jats:italic> gene that could be used in medical practice for the molecular diagnosis, risk assessment susceptibility of the disease for the FAP patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.479","type":"journal-article","created":{"date-parts":[[2018,9,27]],"date-time":"2018-09-27T02:41:49Z","timestamp":1538016109000},"page":"1031-1040","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel large germ line deletion in adenomatous polyposis coli <i>(APC)<\/i> gene associated with familial adenomatous polyposis"],"prefix":"10.1002","volume":"6","author":[{"given":"Farzaneh","family":"Pouya","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Mashhad University of Medical Sciences Mashhad 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