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These syndromes are caused by germline pathogenic variants (PVs) in genes involved in Wnt signalling and DNA repair. The main autosomal dominant adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and polymerase proofreading-associated polyposis (PPAP), caused by germline PVs in\n                    <jats:italic>APC<\/jats:italic>\n                    and the\n                    <jats:italic>POLE<\/jats:italic>\n                    and\n                    <jats:italic>POLD1<\/jats:italic>\n                    genes, respectively. Autosomal recessive syndromes include those caused by biallelic PVs in the DNA mismatch repair genes\n                    <jats:italic>MLH1<\/jats:italic>\n                    ,\n                    <jats:italic>MSH2<\/jats:italic>\n                    ,\n                    <jats:italic>MSH6<\/jats:italic>\n                    ,\n                    <jats:italic>PMS2<\/jats:italic>\n                    ,\n                    <jats:italic>MSH3<\/jats:italic>\n                    and probably\n                    <jats:italic>MLH3<\/jats:italic>\n                    , and in the base excision repair genes\n                    <jats:italic>MUTYH<\/jats:italic>\n                    ,\n                    <jats:italic>NTHL1<\/jats:italic>\n                    and\n                    <jats:italic>MBD4<\/jats:italic>\n                    . This review provides an in-depth discussion of the genetic and molecular mechanisms underlying hereditary adenomatous polyposis syndromes, their clinical presentations, tumour mutational signatures, and emerging approaches for the treatment of the associated cancers. Considerations for genetic testing are described, including post-zygotic mosaicism, non-coding PVs, the interpretation of variants of unknown significance and cancer risks associated with monoallelic variants in the recessive genes. Despite advances in genetic testing and the recent identification of new adenomatous polyposis genes, many cases of multiple adenomas remain genetically unexplained. Non-genetic factors, including environmental risk factors, prior oncologic treatments, and bacterial genotoxins colonising the intestine - particularly colibactin-producing\n                    <jats:italic>Escherichia coli<\/jats:italic>\n                    - have emerged as alternative pathogenic mechanisms.\n                  <\/jats:p>","DOI":"10.1007\/s10689-025-00460-0","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T07:57:20Z","timestamp":1744790240000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Genetics, genomics and clinical features of adenomatous polyposis"],"prefix":"10.1007","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3331-5335","authenticated-orcid":false,"given":"Jihoon E.","family":"Joo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9672-6951","authenticated-orcid":false,"given":"Julen","family":"Viana-Errasti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2225-6675","authenticated-orcid":false,"given":"Daniel D.","family":"Buchanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0371-0844","authenticated-orcid":false,"given":"Laura","family":"Valle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,4,16]]},"reference":[{"issue":"1","key":"460_CR1","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/S2468-1253(23)00240-6","volume":"9","author":"L Valle","year":"2024","unstructured":"Valle L, Monahan KJ (2024) Genetic predisposition to Gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management. 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