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Familial multiple polyposis syndrome(FAP)

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
Synonyms: Adenomatous polyposis coli; Adenomatous polyposis of the colon; Familial adenomatous polyposis; Familial adenomatous polyposis of the colon; Familial intestinal polyposis; Familial multiple polyposis; Familial polyposis; Familial polyposis of the colon; FAP; Hereditary polyposis coli; Polyposis, adenomatous intestinal
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Adenomatous polyposis coli (70921007); Familial polyposis coli (70921007); Polyposis coli (70921007); Familial multiple polyposis syndrome (72900001); [M]Adenomatous polyposis coli (70921007); [M]Familial polyposis coli (70921007); Familial adenomatous polyposis (72900001); MYH-associated polyposis (423471004); MAP - MYH associated polyposis (423471004); FPC - Familial polyposis coli (72900001); Polyposis coli (72900001); FAP - Familial adenomatous polyposis (72900001); Adenomatous polyposis (72900001); Adenomatous polyposis coli (72900001); APC - Adenomatous polyposis coli (72900001); Familial polyposis coli (72900001)
 
OMIM®: 175100; 611731
OMIM® Phenotypic series: PS175100
Orphanet: ORPHA733

Definition

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.
[from GHR]

Clinical features

Adrenocortical adenoma
MedGen UID:
61654
Concept ID:
C0206667
Neoplastic Process
Adrenocortical adenomas are benign tumors of the adrenal cortex.
Adrenocortical Carcinoma
MedGen UID:
104917
Concept ID:
C0206686
Neoplastic Process
A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.
Papillary thyroid carcinoma
MedGen UID:
66773
Concept ID:
C0238463
Neoplastic Process
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010). Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer NMTC2 (188470) is caused by mutation in the SRGAP1 gene (606523). NMTC3 (606240) represents a susceptibility locus mapped to chromosome 2q21. NMTC4 (616534) is caused by mutation in the FOXE1 gene (602617). NMTC5 (616535) is caused by mutation in the HABP2 gene (603924). A susceptibility gene for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p.
Small intestine carcinoid
MedGen UID:
356894
Concept ID:
C1868072
Finding
Osteoma
MedGen UID:
18220
Concept ID:
C0029440
Neoplastic Process
A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Fibroadenoma of the breast
MedGen UID:
64231
Concept ID:
C0178421
Neoplastic Process
A benign biphasic tumor of the breast with epithelial and stromal components.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial multiple polyposis syndrome
Follow this link to review classifications for Familial multiple polyposis syndrome in Orphanet.

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee.
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. PMID: 25394175
Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin JP, Møller P, Myrhøi T, Nagengast FM, Parc Y, Phillips R, Clark SK, de Leon MP, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J
Gut 2008 May;57(5):704-13. Epub 2008 Jan 14 doi: 10.1136/gut.2007.136127. PMID: 18194984

Recent clinical studies

Etiology

Liu C, Gallagher RL, Price GR, Bolton E, Joy C, Harraway J, Venter DJ, Armes JE
Int J Gynecol Pathol 2016 Nov;35(6):561-565. doi: 10.1097/PGP.0000000000000289. PMID: 27015438
Jiang SS, Li JJ, Li Y, He LJ, Wang QJ, Weng DS, Pan K, Liu Q, Zhao JJ, Pan QZ, Zhang XF, Tang Y, Chen CL, Zhang HX, Xu GL, Zeng YX, Xia JC
Oncotarget 2015 Sep 29;6(29):27267-74. doi: 10.18632/oncotarget.4776. PMID: 26311738Free PMC Article
Campos FG
World J Gastroenterol 2014 Nov 28;20(44):16620-9. doi: 10.3748/wjg.v20.i44.16620. PMID: 25469031Free PMC Article
Estrella JS, Taggart MW, Rashid A, Abraham SC
Hum Pathol 2014 Oct;45(10):2051-8. Epub 2014 Jul 24 doi: 10.1016/j.humpath.2014.07.001. PMID: 25149552
Alkhouri N, Franciosi JP, Mamula P
J Pediatr Gastroenterol Nutr 2010 Dec;51(6):727-32. doi: 10.1097/MPG.0b013e3181e1a224. PMID: 20808249

Diagnosis

Liu C, Gallagher RL, Price GR, Bolton E, Joy C, Harraway J, Venter DJ, Armes JE
Int J Gynecol Pathol 2016 Nov;35(6):561-565. doi: 10.1097/PGP.0000000000000289. PMID: 27015438
Jiang SS, Li JJ, Li Y, He LJ, Wang QJ, Weng DS, Pan K, Liu Q, Zhao JJ, Pan QZ, Zhang XF, Tang Y, Chen CL, Zhang HX, Xu GL, Zeng YX, Xia JC
Oncotarget 2015 Sep 29;6(29):27267-74. doi: 10.18632/oncotarget.4776. PMID: 26311738Free PMC Article
Li FF, Liu Z, Yan P, Shao X, Deng X, Sam C, Chen YG, Xu YP, Wang XS, Wang GY, Liu SL
Int J Mol Med 2015 Oct;36(4):1049-56. Epub 2015 Aug 5 doi: 10.3892/ijmm.2015.2303. PMID: 26252958
Campos FG
World J Gastroenterol 2014 Nov 28;20(44):16620-9. doi: 10.3748/wjg.v20.i44.16620. PMID: 25469031Free PMC Article
Ioannidis O, Paraskevas G, Chatzopoulos S, Kotronis A, Papadimitriou N, Konstantara A, Makrantonakis A, Kakoutis E
Rev Esp Enferm Dig 2012 Mar;104(3):146-50. PMID: 22449158

Therapy

Narayan S, Sharma R
Life Sci 2015 Oct 15;139:145-52. Epub 2015 Sep 1 doi: 10.1016/j.lfs.2015.08.019. PMID: 26334567Free PMC Article
Li FF, Liu Z, Yan P, Shao X, Deng X, Sam C, Chen YG, Xu YP, Wang XS, Wang GY, Liu SL
Int J Mol Med 2015 Oct;36(4):1049-56. Epub 2015 Aug 5 doi: 10.3892/ijmm.2015.2303. PMID: 26252958
Campos FG
World J Gastroenterol 2014 Nov 28;20(44):16620-9. doi: 10.3748/wjg.v20.i44.16620. PMID: 25469031Free PMC Article
Ioannidis O, Paraskevas G, Chatzopoulos S, Kotronis A, Papadimitriou N, Konstantara A, Makrantonakis A, Kakoutis E
Rev Esp Enferm Dig 2012 Mar;104(3):146-50. PMID: 22449158
Langeveld D, Jansen M, de Boer DV, van Sprundel M, Brosens LA, Morsink FH, Giardiello FM, Offerhaus GJ, de Leng WW
Gut 2012 Jun;61(6):839-46. Epub 2011 Sep 22 doi: 10.1136/gutjnl-2011-300622. PMID: 21940722Free PMC Article

Prognosis

Liu C, Gallagher RL, Price GR, Bolton E, Joy C, Harraway J, Venter DJ, Armes JE
Int J Gynecol Pathol 2016 Nov;35(6):561-565. doi: 10.1097/PGP.0000000000000289. PMID: 27015438
Miao CG, Shi WJ, Xiong YY, Yu H, Zhang XL, Qin MS, Du CL, Song TW, Zhang B, Li J
Immunol Lett 2015 Jul;166(1):45-54. Epub 2015 May 28 doi: 10.1016/j.imlet.2015.05.011. PMID: 26028359
Ioannidis O, Paraskevas G, Chatzopoulos S, Kotronis A, Papadimitriou N, Konstantara A, Makrantonakis A, Kakoutis E
Rev Esp Enferm Dig 2012 Mar;104(3):146-50. PMID: 22449158
Langeveld D, Jansen M, de Boer DV, van Sprundel M, Brosens LA, Morsink FH, Giardiello FM, Offerhaus GJ, de Leng WW
Gut 2012 Jun;61(6):839-46. Epub 2011 Sep 22 doi: 10.1136/gutjnl-2011-300622. PMID: 21940722Free PMC Article
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

Clinical prediction guides

Liu C, Gallagher RL, Price GR, Bolton E, Joy C, Harraway J, Venter DJ, Armes JE
Int J Gynecol Pathol 2016 Nov;35(6):561-565. doi: 10.1097/PGP.0000000000000289. PMID: 27015438
Papp J, Kovacs ME, Matrai Z, Orosz E, Kásler M, Børresen-Dale AL, Olah E
Fam Cancer 2016 Jan;15(1):85-97. doi: 10.1007/s10689-015-9845-5. PMID: 26446593Free PMC Article
Estrella JS, Taggart MW, Rashid A, Abraham SC
Hum Pathol 2014 Oct;45(10):2051-8. Epub 2014 Jul 24 doi: 10.1016/j.humpath.2014.07.001. PMID: 25149552
Trufant J, Kurz W, Frankel A, Muthusamy V, McKinnon W, Greenblatt M, Lazar A, Cook D, Bosenberg M
J Cutan Pathol 2012 Apr;39(4):440-3. Epub 2011 Dec 12 doi: 10.1111/j.1600-0560.2011.01836.x. PMID: 22150579
Langeveld D, Jansen M, de Boer DV, van Sprundel M, Brosens LA, Morsink FH, Giardiello FM, Offerhaus GJ, de Leng WW
Gut 2012 Jun;61(6):839-46. Epub 2011 Sep 22 doi: 10.1136/gutjnl-2011-300622. PMID: 21940722Free PMC Article

Recent systematic reviews

Almeida FT, Pachêco-Pereira C, Porporatti AL, Flores-Mir C, Leite AF, De Luca Canto G, Guerra EN
J Gastroenterol Hepatol 2016 Mar;31(3):527-40. doi: 10.1111/jgh.13149. PMID: 26331960
Slowik V, Attard T, Dai H, Shah R, Septer S
BMC Gastroenterol 2015 Jul 16;15:84. doi: 10.1186/s12876-015-0306-2. PMID: 26179480Free PMC Article
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology.
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
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
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. PMID: 20528895

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