| Written | 1998-06 | Sylviane Olschwang |
| INSERM U434, Fondation Jean Dausset - C.E.P.H., 27, rue Juliette Dodu, 75010 Paris, France |
| Identity |
| Other names | Adenomatous polyposis of the colon |
| Gardner syndrome | |
| Atlas_Id | 10012 |
| Genes implicated in | APC |
| Inheritance | autosomal dominant disorder; frequency is about 2.5/105 newborns; neomutation in 20%; variable expressivity; penetrance close to 100% by the age of 40 yrs. |
| Clinics |
| Phenotype and clinics | |
| Neoplastic risk | - colorectal cancer(s) develop from the polyps through a dysplastic stage - malignancies may be found in other sites: liver (hepatoblastoma), brain (medulloblastoma), thyroid. |
| Prognosis | colorectal cancer in early adult life (median age: 40 yrs) is the first cause of death in this disease. |
| Genes involved and Proteins |
| Gene Name | APC |
| Location | 5q21 |
| Protein | |
| Description | tumour suppressor gene; the APC normal gene product interacts with the adherens junction proteins a and β-catenin |
| Mutations | |
| Germinal | FAP is caused by a highly heterogeneous spectrum of point mutations that represents a problem for molecular genetic diagnosis; but all the mutations are chain terminating and some correlations between the position of the mutation and the phenotypic consequences have been described: - germline mutations between codons 1250 and 1464 are associated with profuse polyposis; - an attenuated adenomatous polyposis coli (AAPC) is associated with mutations located very close to the 5-prime end of the APC gene; - the extent of congenital hypertrophy of the retinal pigment epithelium (CHRPE) depends on the position of the protein-truncating mutation in APC; CHRPE lesions are almost always absent if the mutation occur before exon 9, but are consistently present if it occurs after this exon; - patients with a mutation between codons 1445 and 1578 do not express CHRPE; however, these patients developed severe desmoid tumors. |
| Bibliography |
| Identification and characterization of the familial adenomatous polyposis coli gene. |
| Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M |
| Cell. 1991 ; 66 (3) : 589-600. |
| PMID 1651174 |
| Lessons from hereditary colorectal cancer. |
| Kinzler KW, Vogelstein B |
| Cell. 1996 ; 87 (2) : 159-170. |
| PMID 8861899 |
| Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. |
| Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P |
| Science (New York, N.Y.). 1991 ; 253 (5020) : 665-669. |
| PMID 1651563 |
| Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. |
| Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G |
| Cell. 1993 ; 75 (5) : 959-968. |
| PMID 8252631 |
| APC mutations occur early during colorectal tumorigenesis. |
| Powell SM, Zilz N, Beazer-Barclay Y, Bryan TM, Hamilton SR, Thibodeau SN, Vogelstein B, Kinzler KW |
| Nature. 1992 ; 359 (6392) : 235-237. |
| PMID 1528264 |
| Citation |
| This paper should be referenced as such : |
| Olschwang, S |
| Familial adenomatous polyposis (FAP) |
| Atlas Genet Cytogenet Oncol Haematol. 1998;2(4):157-158. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/adenom_polID10012.html |
| External links |
| OMIM | 175100 |
| Orphanet | Familial adenomatous polyposis |
| MeSH | D011125 |
| MedGen | D011125 |
| UMLS | C0032580 |
| ICD-10 | D12.6 |
| HGMD | 119682 |
| Other database | Familial Adenomatous Polyposis - GeneClinics |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:24:07 CEST 2017 |
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