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Adenomatous polyposis syndromes, mode of inheritance, causal genes, affected molecular pathways and associated COSMIC tumour mutational signatures, and possible causes of adenomatous polyposis in patients without germline PVs in known polyposis genes. Abbreviations : CMMRD, constitutional mismatch repair deficiency; CRC, colorectal cancer; FAP, familial adenomatous polyposis; LS, Lynch syndrome; MANS, MBD4-associated neoplasia syndrome; MAP, MUTYH-associated polyposis; MMR, mismatch repair; NTS, NTHL1 tumour syndrome; PPAP, polymerase proofreading-associated polyposis; ED, exonuclease domain

Journal: Familial Cancer

Article Title: Genetics, genomics and clinical features of adenomatous polyposis

doi: 10.1007/s10689-025-00460-0

Figure Lengend Snippet: Adenomatous polyposis syndromes, mode of inheritance, causal genes, affected molecular pathways and associated COSMIC tumour mutational signatures, and possible causes of adenomatous polyposis in patients without germline PVs in known polyposis genes. Abbreviations : CMMRD, constitutional mismatch repair deficiency; CRC, colorectal cancer; FAP, familial adenomatous polyposis; LS, Lynch syndrome; MANS, MBD4-associated neoplasia syndrome; MAP, MUTYH-associated polyposis; MMR, mismatch repair; NTS, NTHL1 tumour syndrome; PPAP, polymerase proofreading-associated polyposis; ED, exonuclease domain

Article Snippet: The InSiGHT/ClinGen Hereditary Colorectal Cancer and Polyposis Variant Curation Expert Panel ( https://clinicalgenome.org/affiliation/50099/ ; accessed 31/1/2025) was established by the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) and the Clinical Genome Resource (ClinGen) with the task of developing gene-specific recommendations for variant interpretation.

Techniques: