Abstract
The first well-described and histologically corroborated case of familial adenomatous polyposis (FAP) was reported in 1881 in a 51-year-old Russian man (Bülow et al. 2006). In the decades that followed, several cases were documented which demonstrated the genetic predisposition of developing FAP, the high incidence of FAP among young adults, and its marked association with colorectal cancers (CRC). More than a century after the first published case of FAP, the APC gene was discovered, and its mutations were linked to the adenomatous polyposis disease. Finally, at the beginning of the 2000s, it was demonstrated that mutations in the MUTYH gene predispose to a recessive phenotype with multiple colorectal adenomas (Bülow et al. 2006).
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References
Bülow S, Berk T, Neale K (2006) The history of familial adenomatous polyposis. Familial Cancer 5(3):213–220
Galiatsatos P, Foulkes WD (2006) Familial adenomatous polyposis. Am J Gastroenterol 101(2):385–398
Half E, Bercovich D, Rozen P (2009) Familial adenomatous polyposis. Orphanet J Rare Dis 4(1):22
Jasperson KW, Patel SG, Ahnen DJ (1993–2020) APC-associated polyposis conditions. 1998 [updated 2017]. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle, Seattle
Nielsen M, Infante E, Brand R (1993–2020) MUTYH polyposis. 2012 [updated 2019]. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle, Seattle
Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K et al (2017) Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol 3(4):464–471
Roncucci L, Pedroni M, Mariani F (2017) Attenuated adenomatous polyposis of the large bowel: present and future. World J Gastroenterol 23(23):4135–4139
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Alaimo, A. (2022). Familial Adenomatous Polyposis (FAP): FAP Type 1 and FAP Type 2. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1003-1
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DOI: https://doi.org/10.1007/978-3-319-66816-1_1003-1
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