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Adenomatous polyposis coli(FAP1)

MedGen UID:
449379
Concept ID:
CN074282
Disease or Syndrome
Synonyms: ADENOMATOUS POLYPOSIS OF THE COLON; APC-Associated Polyposis Conditions; Colon Cancer (APC I1307K related); FAMILIAL ADENOMATOUS POLYPOSIS 1; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; FAMILIAL POLYPOSIS OF THE COLON; FAP1; POLYPOSIS, ADENOMATOUS INTESTINAL
 
Gene: APC
Cytogenetic location: 5q22.2
OMIM: 175100

Disease characteristics

Excerpted from the GeneReview: APC-Associated Polyposis Conditions
APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, Gardner syndrome, and Turcot syndrome. FAP is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by a significant risk for colon cancer but fewer colonic polyps (average of 30), more proximally located polyps, and diagnosis of colon cancer at a later age; management may be substantially different. Gardner syndrome is characterized by colonic polyposis typical of FAP together with osteomas and soft tissue tumors. Turcot syndrome is the association of colonic polyposis and central nervous system (CNS) tumors. Differences in phenotype may relate to the location of the pathogenic variant within APC. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Kory W Jasperson  |  Randall W Burt   view full author information

Additional descriptions

From OMIM
Familial adenomatous polyposis is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991). Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. See also FAP2 (608456), a similar disorder showing autosomal recessive inheritance and caused by mutation in the MUTYH gene (604933) on chromosome 1p34.  http://www.omim.org/entry/175100
From GHR
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome. A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.  http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Aretz S, Vasen HF, Olschwang S
Eur J Hum Genet 2011 Jul;19(7) Epub 2011 Feb 2 doi: 10.1038/ejhg.2011.7. [Epub ahead of print] PMID: 21368914Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628
Church J, Lowry A, Simmang C; Standards Task Force; American Society of Colon and Rectal Surgeons
Dis Colon Rectum 2001 Oct;44(10):1404-12. PMID: 11598466

Recent clinical studies

Etiology

Bottarelli L, Azzoni C, Pizzi S, D'Adda T, Silini EM, Bordi C, Rindi G
Hum Pathol 2013 Dec;44(12):2736-42. Epub 2013 Oct 16 doi: 10.1016/j.humpath.2013.06.019. [Epub ahead of print] PMID: 24139208
Erdem H, Yildirim U, Uzunlar AK, Cam K, Tekin A, Kayikci MA, Sahiner C, Oktay M, Ankarali H, Aydin LY
Niger J Clin Pract 2013 Oct-Dec;16(4):418-23. doi: 10.4103/1119-3077.116873. PMID: 23974731
Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M
Br J Surg 2013 Apr;100(5):694-703. Epub 2013 Jan 18 doi: 10.1002/bjs.9053. [Epub ahead of print] PMID: 23334997
Pérez-Sayáns M, Suárez-Peñaranda JM, Herranz-Carnero M, Gayoso-Diz P, Barros-Angueira F, Gándara-Rey JM, García-García A
Oral Oncol 2012 Jan;48(1):56-60. Epub 2011 Sep 19 doi: 10.1016/j.oraloncology.2011.09.001. [Epub ahead of print] PMID: 21937258
Miladi-Abdennadher I, Amouri A, Ayadi L, Khabir A, Ellouze S, Tahri N, Frikha M, Sellami-Boudawara T, Mokdad-Gargouri R
Fam Cancer 2011 Sep;10(3):567-71. doi: 10.1007/s10689-011-9451-0. PMID: 21598003

Diagnosis

Gerecke C, Mascher C, Gottschalk U, Kleuser B, Scholtka B
Cancer Prev Res (Phila) 2013 Sep;6(9):898-907. doi: 10.1158/1940-6207.CAPR-13-0145. PMID: 24005794
Erdem H, Yildirim U, Uzunlar AK, Cam K, Tekin A, Kayikci MA, Sahiner C, Oktay M, Ankarali H, Aydin LY
Niger J Clin Pract 2013 Oct-Dec;16(4):418-23. doi: 10.4103/1119-3077.116873. PMID: 23974731
Dumitrascu T, Ionescu M
Colorectal Dis 2012 Feb;14(2):e74-5. doi: 10.1111/j.1463-1318.2011.02627.x. PMID: 21689316
Toiyama Y, Inoue Y, Yasuda H, Yoshiyama S, Araki T, Miki C, Kusunoki M
Surg Today 2011 Oct;41(10):1442-6. Epub 2011 Sep 16 doi: 10.1007/s00595-010-4451-5. [Epub ahead of print] PMID: 21922375
Lima BR, Schoenfield L, Rychwalski PJ
J AAPOS 2011 Feb;15(1):71-3. doi: 10.1016/j.jaapos.2010.11.004. PMID: 21315632

Therapy

Zhang J, Cao H, Zhang B, Cao H, Xu X, Ruan H, Yi T, Tan L, Qu R, Song G, Wang B, Hu T
J Cell Mol Med 2013 Nov;17(11):1484-93. Epub 2013 Sep 9 doi: 10.1111/jcmm.12119. [Epub ahead of print] PMID: 24015932
Han Y, Cai H, Ma L, Ding Y, Tan X, Liu Y, Su T, Yu Y, Chang W, Zhang H, Fu C, Cao G
Eur J Cancer 2013 Nov;49(16):3420-30. Epub 2013 Jun 25 doi: 10.1016/j.ejca.2013.06.001. [Epub ahead of print] PMID: 23809767
Jaiswal AS, Panda H, Pampo CA, Siemann DW, Gairola CG, Hromas R, Narayan S
Neoplasia 2013 Apr;15(4):454-60. PMID: 23555190Free PMC Article
Lima BR, Schoenfield L, Rychwalski PJ
J AAPOS 2011 Feb;15(1):71-3. doi: 10.1016/j.jaapos.2010.11.004. PMID: 21315632
Wong HL, Peters U, Hayes RB, Huang WY, Schatzkin A, Bresalier RS, Velie EM, Brody LC
Eur J Cancer 2010 Sep;46(13):2457-66. Epub 2010 May 24 doi: 10.1016/j.ejca.2010.04.020. [Epub ahead of print] PMID: 20510605Free PMC Article

Prognosis

Erdem H, Yildirim U, Uzunlar AK, Cam K, Tekin A, Kayikci MA, Sahiner C, Oktay M, Ankarali H, Aydin LY
Niger J Clin Pract 2013 Oct-Dec;16(4):418-23. doi: 10.4103/1119-3077.116873. PMID: 23974731
Han Y, Cai H, Ma L, Ding Y, Tan X, Liu Y, Su T, Yu Y, Chang W, Zhang H, Fu C, Cao G
Eur J Cancer 2013 Nov;49(16):3420-30. Epub 2013 Jun 25 doi: 10.1016/j.ejca.2013.06.001. [Epub ahead of print] PMID: 23809767
Miladi-Abdennadher I, Amouri A, Ayadi L, Khabir A, Ellouze S, Tahri N, Frikha M, Sellami-Boudawara T, Mokdad-Gargouri R
Fam Cancer 2011 Sep;10(3):567-71. doi: 10.1007/s10689-011-9451-0. PMID: 21598003
Ganschow P, Pfeiffer U, Hinz U, Leowardi C, Herfarth C, Kadmon M
Dis Colon Rectum 2010 Oct;53(10):1381-7. doi: 10.1007/DCR.0b013e3181e56feb. PMID: 20847619
Guimarães AP, Rocha RM, da Cunha IW, Guimarães GC, Carvalho AL, de Camargo B, Lopes A, Squire JA, Soares FA
Eur J Cancer 2010 Dec;46(18):3307-15. Epub 2010 Jun 30 doi: 10.1016/j.ejca.2010.06.004. [Epub ahead of print] PMID: 20594821

Clinical prediction guides

Ashida N, Kishihata M, Tien DN, Kamei K, Kimura T, Yokode M
Biochem Biophys Res Commun 2014 Apr 4;446(2):460-4. Epub 2014 Mar 12 doi: 10.1016/j.bbrc.2014.02.134. [Epub ahead of print] PMID: 24613833
Bottarelli L, Azzoni C, Pizzi S, D'Adda T, Silini EM, Bordi C, Rindi G
Hum Pathol 2013 Dec;44(12):2736-42. Epub 2013 Oct 16 doi: 10.1016/j.humpath.2013.06.019. [Epub ahead of print] PMID: 24139208
Erdem H, Yildirim U, Uzunlar AK, Cam K, Tekin A, Kayikci MA, Sahiner C, Oktay M, Ankarali H, Aydin LY
Niger J Clin Pract 2013 Oct-Dec;16(4):418-23. doi: 10.4103/1119-3077.116873. PMID: 23974731
Berrada N, Amzazi S, Ameziane El Hassani R, Benbacer L, El Mzibri M, Khyatti M, Chafiki J, Abbar M, Al Bouzidi A, Ameur A, Attaleb M
Cell Mol Biol (Noisy-le-grand) 2012 Sep 10;Suppl.58:OL1744-51. PMID: 22992440
Wang ZK, Liu J, Liu C, Wang FY, Chen CY, Zhang XH
J Gastroenterol Hepatol 2012 Oct;27(10):1629-34. doi: 10.1111/j.1440-1746.2012.07219.x. PMID: 22741528

Recent systematic reviews

Church JM, Xhaja X, Warrier SK, Laguardia L, O'Malley M, Burke C, Kalady MF
Dis Colon Rectum 2014 Mar;57(3):343-7. doi: 10.1097/DCR.0b013e3182a85d9f. PMID: 24509457
Barrow P, Khan M, Lalloo F, Evans DG, Hill J
Br J Surg 2013 Dec;100(13):1719-31. doi: 10.1002/bjs.9316. PMID: 24227356
Balmaña J, Balaguer F, Cervantes A, Arnold D; ESMO Guidelines Working Group
Ann Oncol 2013 Oct;24 Suppl 6:vi73-80. Epub 2013 Jun 27 doi: 10.1093/annonc/mdt209. [Epub ahead of print] PMID: 23813931
Shatnawei A, Habib M, Hamilton C, Steiger E, Kirby DF, Speerhas R, Quintini C
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):683-8. Epub 2013 Jan 14 doi: 10.1177/0148607112471860. [Epub ahead of print] PMID: 23319384
Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK
Colorectal Dis 2011 Nov;13(11):1222-9. Epub 2010 Jun 2 doi: 10.1111/j.1463-1318.2010.02345.x. [Epub ahead of print] PMID: 20528895

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