Yen T, Stanich PP, Axell L et al (2022) APC-associated polyposis conditions. 1998 Dec 18. GeneReviews® [Internet]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. University of Washington, Seattle, pp 1993–2022

Tomita N, Ishida H, Tanakaya K et al (2021) Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer. Int J Clin Oncol 26:1353–1419

Article  PubMed  PubMed Central  Google Scholar 

Mori Y, Amano K, Chikatani K et al (2022) Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan. Int J Clin Oncol 27:1034–1042

Article  PubMed  Google Scholar 

Ishikawa H, Mutoh M, Iwama T et al (2016) Endoscopic management of familial adenomatous polyposis in patients refusing colectomy. Endoscopy 48:51–55

PubMed  Google Scholar 

Matsubara T, Beppu N, Ikeda M et al (2022) Current clinical practice for familial adenomatous polyposis in Japan: a nationwide multicenter study. Ann Gastroenterol Surg 6:778–787

Article  PubMed  PubMed Central  Google Scholar 

Vasen HFA, Ghorbanoghli Z, de Ruijter B et al (2019) Optimizing the timing of colorectal surgery in patients with familial adenomatous polyposis in clinical practice. Scand J Gastroenterol 54:733–739

Article  PubMed  Google Scholar 

Lynch PM, Morris JS, Wen S et al (2016) A proposed staging system and stage-specific interventions for familial adenomatous polyposis. Gastrointest Endosc 84:115-125.e4

Article  PubMed  PubMed Central  Google Scholar 

Campos FG (2014) Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations. World J Gastroenterol 20:16620–16629

Article  PubMed  PubMed Central  Google Scholar 

Kartheuser A, Stangherlin P, Brandt D et al (2006) Restorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited. Fam Cancer 5:241–260

Article  PubMed  Google Scholar 

Wallace MH, Frayling IM, Clark SK et al (1999) Attenuated adenomatous polyposis coli: the role of ascertainment bias through failure to dye-spray at colonoscopy. Dis Colon Rectum 42:1078–1080

Article  PubMed  CAS  Google Scholar 

Young J, Simms LA, Tarish J et al (1998) A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9. Hum Mutat 11:450–455

Article  PubMed  CAS  Google Scholar 

Cheah PY, Wong YH, Koh PK et al (2014) A novel indel in exon 9 of APC upregulates a ‘skip exon 9’ isoform and causes very severe familial adenomatous polyposis. Eur J Hum Genet 22:833–836

Article  PubMed  CAS  Google Scholar 

Su LK, Barnes CJ, Yao W et al (2000) Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. Am J Hum Genet 67:582–590

Article  PubMed  PubMed Central  CAS  Google Scholar 

Jansen AML, Goel A (2020) Mosaicism in patients with colorectal cancer or polyposis syndromes: a systematic review. Clin Gastroenterol Hepatol 18:1949–1960

Article  PubMed  CAS  Google Scholar 

Takao M, Yamaguchi T, Eguchi H et al (2021) APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients. Int J Clin Oncol 26:1661–1670

Article  PubMed  CAS  Google Scholar 

Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424

Article  PubMed  PubMed Central  Google Scholar 

James DB (editor) (2016) M.K.G.E. In: Wittekind C editor, TNM classification of malignant tumours, 8th ed. Willey, Oxford

Sieber OM, Segditsas S, Knudsen AL et al (2006) Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. Gut 55:1440–1448

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kim HJ, Fay MP, Feuer EJ et al (2000) Permutation tests for joinpoint regression with applications to cancer rates. Stat Med 19:335–351

Article  PubMed  CAS  Google Scholar 

Iwama T, Mishima Y, Utsunomiya J (1993) The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 217:101–108

Article  PubMed  PubMed Central  CAS  Google Scholar 

Iwama T, Tamura K, Morita T et al (2004) A clinical overview of familial adenomatous polyposis derived from the database of the polyposis registry of Japan. Int J Clin Oncol 9:308–316

Article  PubMed  Google Scholar 

Hanson CA, Miller JR (2005) Non-traditional roles for the adenomatous polyposis coli (APC) tumor suppressor protein. Gene 361:1–12

Article  PubMed  CAS  Google Scholar 

Spirio L, Olschwang S, Groden J et al (1993) Alleles of the APC gene: an attenuated form of familial polyposis. Cell 75:951–957

Article  PubMed  CAS  Google Scholar 

Sulekova Z, Reina-Sanchez J, Ballhausen WG (1995) Multiple APC messenger RNA isoforms encoding exon 15 short open reading frames are expressed in the context of a novel exon 10A-derived sequence. Int J Cancer 63:435–441

Article  PubMed  CAS  Google Scholar 

Rozen P, Samuel Z, Shomrat R et al (1999) Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9. Gut 45:829–833

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ishikawa H, Yamada M, Sato Y et al (2022) Intensive endoscopic resection for downstaging of polyp burden in patients with familial adenomatous polyposis (J-FAPP Study III): a multicenter prospective interventional study. Endoscopy. https://doi.org/10.1055/a-1945-9120

Article  PubMed  PubMed Central  Google Scholar