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Review
. 2015 Apr 16:8:95-107.
doi: 10.2147/TACG.S51484. eCollection 2015.

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

Maria Liz Leoz  1 , Sabela Carballal  1 , Leticia Moreira  1 , Teresa Ocaña  1 , Francesc Balaguer  1
Affiliations
Review

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

Maria Liz Leoz et al. Appl Clin Genet. .

Abstract

Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP). FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC), and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP.

Keywords: APC; MAP; MUTYH; colorectal cancer; familial adenomatous polyposis.

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Figures

Figure 1
Figure 1
The functional domains of the APC and MUTYH proteins. Notes: (A) The APC protein consists of an oligomerization domain and an armadillo region in the N-terminus, a number of 15- and 20-aminoacid repeats in its central portion, and a C-terminus that contains a basic domain and binding sites for EB1 and the human disc large (HDLG) protein; (B) The MUTYH protein and its different domains. Abbreviations: RPA, replication protein A; HhH, helix-hairpin-helix; APE1, apurinic endonuclease 1; PCNA, proliferating-cell nuclear antigen; MCR, mutation cluster region.
Figure 2
Figure 2
Genotype–phenotype correlation for the APC gene. Abbreviations: DT, desmoid tumors; CHRPE, congenital hypertrophy of the retinal pigment epithelium; FAP, familial adenomatous polyposis.
See this image and copyright information in PMC

References

    1. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991;253(5020):665–669. - PubMed
    1. Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66(3):589–600. - PubMed
    1. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C–>T: a mutations in colorectal tumors. Nat Genet. 2002;30(2):227–232. - PubMed
    1. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348(10):919–932. - PubMed
    1. Galiatsatos P, Foulkes WD. Familial adenomatous polyposis. Am J Gastroenterol. 2006;101(2):385–398. - PubMed