{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T11:52:17Z","timestamp":1778586737135,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T00:00:00Z","timestamp":1627257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001171","name":"Cancer Institute NSW","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001171","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Inherited polyposis syndromes are predominantly caused by pathogenic variants in\n                    <jats:italic>APC<\/jats:italic>\n                    and are linked to familial adenomatous polyposis (FAP). However, after clinical screening, 20%\u201330% of individuals diagnosed with FAP do not carry a pathogenic variant in\n                    <jats:italic>APC<\/jats:italic>\n                    (often categorised as FAP\u2010like). Other known inherited adenomatous polyposis syndromes such as\n                    <jats:italic>MUTYH<\/jats:italic>\n                    ,\n                    <jats:italic>POLD1\/E<\/jats:italic>\n                    , or\n                    <jats:italic>NTHL1<\/jats:italic>\n                    \u2010associated polyposis only account for, 3 a fraction of the remaining cases. A cohort of 48 individuals clinically diagnosed with a FAP\u2010like phenotype was selected based on a strong family history of colorectal cancer and no previous pathogenic variant found in\n                    <jats:italic>APC<\/jats:italic>\n                    and\/or\n                    <jats:italic>MUTYH,<\/jats:italic>\n                    by genetic screening. Using whole exome sequencing, FAP\u2010like patients were found to carry pathogenic variants in\n                    <jats:italic>MUTYH<\/jats:italic>\n                    ,\n                    <jats:italic>APC<\/jats:italic>\n                    ,\n                    <jats:italic>POLE<\/jats:italic>\n                    and\n                    <jats:italic>TP53<\/jats:italic>\n                    , as well as DNA\u2010repair genes and inflammation related genes. Additionally, a comprehensive assessment of copy number variation revealed two loci of interest that appeared to be associated with polyposis risk. In total, 6 out of 48 polyposis were explained through re\u2010sequencing. This study highlights the potential role of DNA\u2010repair as well as inflammation\u2010related variants towards polyp development.\n                  <\/jats:p>","DOI":"10.1111\/cge.14029","type":"journal-article","created":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T06:07:33Z","timestamp":1626242853000},"page":"478-483","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Exome sequencing of familial adenomatous polyposis\u2010like individuals identifies both known and novel causative genes"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6397-051X","authenticated-orcid":false,"given":"Alexandre","family":"Xavier","sequence":"first","affiliation":[{"name":"Priority Centre for Cancer Research Hunter Medical Research Institute and the Unviversity of Newcastle  Newcastle New South Wales 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