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Familial multiple polyposis syndrome(FAP)

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
Synonyms: Classic familial adenomatous polyposis; 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
SNOMED CT: Adenomatous polyposis coli (70921007); Familial polyposis coli (70921007); Polyposis coli (70921007); Familial multiple polyposis syndrome (72900001); 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)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same 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
Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): APC (5q22.2)
 
Monarch Initiative: MONDO:0021055
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 MedlinePlus Genetics]

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

Riedel RF, Agulnik M
Cancer 2022 Aug 15;128(16):3027-3040. Epub 2022 Jun 7 doi: 10.1002/cncr.34332. PMID: 35670122Free PMC Article
Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, Clayback KM, Dallas S, Felder S, Gbolahan O, Giardiello FM, Grady W, Hall MJ, Hampel H, Hodan R, Idos G, Kanth P, Katona B, Lamps L, Llor X, Lynch PM, Markowitz AJ, Pirzadeh-Miller S, Samadder NJ, Shibata D, Swanson BJ, Szymaniak BM, Wiesner GL, Wolf A, Yurgelun MB, Zakhour M, Darlow SD, Dwyer MA, Campbell M
J Natl Compr Canc Netw 2021 Oct 15;19(10):1122-1132. doi: 10.1164/jnccn.2021.0048. PMID: 34666312
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

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APC Pathogenic Variants (Familial Adenomatous Polyposis [FAP]), 2019

American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

Suggested Reading

PubMed

PDQ Cancer Genetics Editorial Board
2002 PMID: 26389505

Recent clinical studies

Etiology

Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101793. Epub 2022 Mar 16 doi: 10.1016/j.bpg.2022.101793. PMID: 35988966
Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, Clayback KM, Dallas S, Felder S, Gbolahan O, Giardiello FM, Grady W, Hall MJ, Hampel H, Hodan R, Idos G, Kanth P, Katona B, Lamps L, Llor X, Lynch PM, Markowitz AJ, Pirzadeh-Miller S, Samadder NJ, Shibata D, Swanson BJ, Szymaniak BM, Wiesner GL, Wolf A, Yurgelun MB, Zakhour M, Darlow SD, Dwyer MA, Campbell M
J Natl Compr Canc Netw 2021 Oct 15;19(10):1122-1132. doi: 10.1164/jnccn.2021.0048. PMID: 34666312
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Ma H, Brosens LAA, Offerhaus GJA, Giardiello FM, de Leng WWJ, Montgomery EA
Pathology 2018 Jan;50(1):49-59. Epub 2017 Nov 21 doi: 10.1016/j.pathol.2017.09.004. PMID: 29169633
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

Diagnosis

Aelvoet AS, Buttitta F, Ricciardiello L, Dekker E
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101793. Epub 2022 Mar 16 doi: 10.1016/j.bpg.2022.101793. PMID: 35988966
Weiss JM, Gupta S, Burke CA, Axell L, Chen LM, Chung DC, Clayback KM, Dallas S, Felder S, Gbolahan O, Giardiello FM, Grady W, Hall MJ, Hampel H, Hodan R, Idos G, Kanth P, Katona B, Lamps L, Llor X, Lynch PM, Markowitz AJ, Pirzadeh-Miller S, Samadder NJ, Shibata D, Swanson BJ, Szymaniak BM, Wiesner GL, Wolf A, Yurgelun MB, Zakhour M, Darlow SD, Dwyer MA, Campbell M
J Natl Compr Canc Netw 2021 Oct 15;19(10):1122-1132. doi: 10.1164/jnccn.2021.0048. PMID: 34666312
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
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
Half E, Bercovich D, Rozen P
Orphanet J Rare Dis 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. PMID: 19822006Free PMC Article

Therapy

Stone JK, Mehta NA, Singh H, El-Matary W, Bernstein CN
Fam Cancer 2023 Oct;22(4):413-422. Epub 2023 Apr 29 doi: 10.1007/s10689-023-00334-3. PMID: 37119510
Huang C, Dane B, Santillan C, Ream J
Abdom Radiol (NY) 2023 Sep;48(9):2944-2955. Epub 2023 Feb 5 doi: 10.1007/s00261-023-03803-6. PMID: 36740604
Kiran RP, Kochhar GS, Kariv R, Rex DK, Sugita A, Rubin DT, Navaneethan U, Hull TL, Ko HM, Liu X, Kachnic LA, Strong S, Iacucci M, Bemelman W, Fleshner P, Safyan RA, Kotze PG, D'Hoore A, Faiz O, Lo S, Ashburn JH, Spinelli A, Bernstein CN, Kane SV, Cross RK, Schairer J, McCormick JT, Farraye FA, Chang S, Scherl EJ, Schwartz DA, Bruining DH, Philpott J, Bentley-Hibbert S, Tarabar D, El-Hachem S, Sandborn WJ, Silverberg MS, Pardi DS, Church JM, Shen B
Lancet Gastroenterol Hepatol 2022 Sep;7(9):871-893. Epub 2022 Jul 5 doi: 10.1016/S2468-1253(22)00039-5. PMID: 35798022
Shen B, Kochhar GS, Kariv R, Liu X, Navaneethan U, Rubin DT, Cross RK, Sugita A, D'Hoore A, Schairer J, Farraye FA, Kiran RP, Fleshner P, Rosh J, Shah SA, Chang S, Scherl E, Pardi DS, Schwartz DA, Kotze PG, Bruining DH, Kane SV, Philpott J, Abraham B, Segal J, Sedano R, Kayal M, Bentley-Hibbert S, Tarabar D, El-Hachem S, Sehgal P, McCormick JT, Picoraro JA, Silverberg MS, Bernstein CN, Sandborn WJ, Vermeire S
Lancet Gastroenterol Hepatol 2021 Oct;6(10):826-849. Epub 2021 Aug 18 doi: 10.1016/S2468-1253(21)00101-1. PMID: 34416186
Kemp Bohan PM, Mankaney G, Vreeland TJ, Chick RC, Hale DF, Cindass JL, Hickerson AT, Ensley DC, Sohn V, Clifton GT, Peoples GE, Burke CA
Fam Cancer 2021 Jan;20(1):23-33. Epub 2020 Jun 8 doi: 10.1007/s10689-020-00189-y. PMID: 32507936Free PMC Article

Prognosis

Riedel RF, Agulnik M
Cancer 2022 Aug 15;128(16):3027-3040. Epub 2022 Jun 7 doi: 10.1002/cncr.34332. PMID: 35670122Free PMC Article
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
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
Sampson JR, Jones N
Best Pract Res Clin Gastroenterol 2009;23(2):209-18. doi: 10.1016/j.bpg.2009.03.006. PMID: 19414147
Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Clinical prediction guides

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
Sereno M, Merino M, López-Gómez M, Gómez-Raposo C, Zambrana Tébar F, Moreno Rubio J, Espinós J, Martín-Algarra S, Casado Sáenz E
Clin Transl Oncol 2014 Aug;16(8):675-9. Epub 2014 Mar 19 doi: 10.1007/s12094-014-1171-0. PMID: 24643704
Kim B, Giardiello FM
Best Pract Res Clin Gastroenterol 2011 Aug;25(4-5):607-22. doi: 10.1016/j.bpg.2011.08.002. PMID: 22122775Free PMC Article
Sampson JR, Jones N
Best Pract Res Clin Gastroenterol 2009;23(2):209-18. doi: 10.1016/j.bpg.2009.03.006. PMID: 19414147
Macrae F, du Sart D, Nasioulas S
Best Pract Res Clin Gastroenterol 2009;23(2):197-207. doi: 10.1016/j.bpg.2009.02.010. PMID: 19414146

Recent systematic reviews

Aelvoet AS, Struik D, Bastiaansen BAJ, Bemelman WA, Hompes R, Bossuyt PMM, Dekker E
Fam Cancer 2022 Oct;21(4):429-439. Epub 2022 Jan 13 doi: 10.1007/s10689-022-00288-y. PMID: 35022961Free PMC Article
Morada AO, Senapathi SH, Bashiri A, Chai S, Cagir B
Surg Endosc 2022 Mar;36(3):1750-1760. Epub 2022 Jan 7 doi: 10.1007/s00464-021-08847-7. PMID: 34997348
Muller C, Yamada A, Ikegami S, Haider H, Komaki Y, Komaki F, Micic D, Sakuraba A
Clin Gastroenterol Hepatol 2022 Mar;20(3):622-630.e7. Epub 2021 Jun 2 doi: 10.1016/j.cgh.2021.05.057. PMID: 34089849
Cantalejo-Díaz M, Ramia-Ángel JM, Palomares-Cano A, Serradilla-Martín M
Dig Surg 2021;38(3):186-197. Epub 2021 May 17 doi: 10.1159/000515718. PMID: 34000717
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024
    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APC Pathogenic Variants (Familial Adenomatous Polyposis [FAP]), 2019
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

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