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Attenuated familial adenomatous polyposis(AFAP)

MedGen UID:
436213
Concept ID:
C2674616
Disease or Syndrome
Synonyms: AFAP; Attenuated FAP; Mild form of FAP
SNOMED CT: Attenuated familial adenomatous polyposis (715866009); Attenuated familial polyposis coli (715866009)
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.
 
Monarch Initiative: MONDO:0016362
OMIM®: 175100
Orphanet: ORPHA220460

Definition

A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features. [from SNOMEDCT_US]

Professional guidelines

PubMed

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
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Curated

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

Suggested Reading

Recent clinical studies

Etiology

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
Genes (Basel) 2022 Dec 10;13(12) doi: 10.3390/genes13122326. PMID: 36553592Free 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
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
Knudsen AL, Bülow S, Tomlinson I, Möslein G, Heinimann K, Christensen IJ; AFAP Study Group
Colorectal Dis 2010 Oct;12(10 Online):e243-9. doi: 10.1111/j.1463-1318.2010.02218.x. PMID: 20105204

Diagnosis

Eizuka M, Toya Y, Kosaka T, Oizumi T, Morishita T, Kasugai S, Yanai S, Sugai T, Matsumoto T
Intern Med 2023 Sep 15;62(18):2651-2654. Epub 2023 Feb 1 doi: 10.2169/internalmedicine.1101-22. PMID: 36725040Free PMC Article
Anele CC, Martin I, McGinty Duggan PM, Chauhan J, Clark SK, Faiz OD, Latchford AR
Dis Colon Rectum 2022 Apr 1;65(4):529-535. doi: 10.1097/DCR.0000000000002217. PMID: 34775416
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
Gammon A, Kohlmann W, Burt R
Digestion 2007;76(1):7-19. Epub 2007 Oct 19 doi: 10.1159/000108389. PMID: 17947814

Therapy

Liu Y, Yan M
Front Public Health 2023;11:1224338. Epub 2023 Sep 28 doi: 10.3389/fpubh.2023.1224338. PMID: 37841709Free PMC Article
Biller LH, Ukaegbu C, Dhingra TG, Burke CA, Chertock Y, Chittenden A, Church JM, Koeppe ES, Leach BH, Levinson E, Lim RM, Lutz M, Salo-Mullen E, Sheikh R, Idos G, Kastrinos F, Stoffel E, Weiss JM, Hall MJ, Kalady MF, Stadler ZK, Syngal S, Yurgelun MB
Cancer Prev Res (Phila) 2020 Mar;13(3):291-298. Epub 2020 Feb 12 doi: 10.1158/1940-6207.CAPR-19-0416. PMID: 32051178Free PMC Article
Sokic-Milutinovic A
Dig Dis 2019;37(5):400-405. Epub 2019 Mar 5 doi: 10.1159/000497207. PMID: 30836352
Church J, Kravochuck S
Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575. PMID: 27145315
Steinhagen E, Hui VW, Levy RA, Markowitz AJ, Fish S, Wong RJ, Sood R, Ochman SM, Guillem JG
Am J Surg 2014 Nov;208(5):764-769. Epub 2014 Jun 20 doi: 10.1016/j.amjsurg.2014.03.012. PMID: 25073656

Prognosis

King JA, Bakal JA, Li B, Whitten TA, Gidrewicz D, Turner JM, van Zanten SV, Huynh HQ, Heitman SJ, Shaheen AA, Quan H, Godley J, Underwood FE, Hracs L, Bergman D, Ludvigsson JF, Lebwohl B, Benchimol EI, Williamson T, Kaplan GG
Gastroenterology 2023 Apr;164(4):567-578.e7. Epub 2023 Jan 10 doi: 10.1053/j.gastro.2022.12.040. PMID: 36634826
Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
Genes (Basel) 2022 Dec 10;13(12) doi: 10.3390/genes13122326. PMID: 36553592Free PMC Article
Li YS, Zhang BB, Zhang X, Fan S, Fei LP, Yang C, Ren NJ, Li X, Luo YM, Zhang JH
BMC Infect Dis 2022 Aug 1;22(1):663. doi: 10.1186/s12879-022-07651-5. PMID: 35915398Free 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
Knudsen AL, Bisgaard ML, Bülow S
Fam Cancer 2003;2(1):43-55. doi: 10.1023/a:1023286520725. PMID: 14574166

Clinical prediction guides

Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A
Genes (Basel) 2022 Dec 10;13(12) doi: 10.3390/genes13122326. PMID: 36553592Free PMC Article
Li YS, Zhang BB, Zhang X, Fan S, Fei LP, Yang C, Ren NJ, Li X, Luo YM, Zhang JH
BMC Infect Dis 2022 Aug 1;22(1):663. doi: 10.1186/s12879-022-07651-5. PMID: 35915398Free PMC Article
Anele CC, Martin I, McGinty Duggan PM, Chauhan J, Clark SK, Faiz OD, Latchford AR
Dis Colon Rectum 2022 Apr 1;65(4):529-535. doi: 10.1097/DCR.0000000000002217. PMID: 34775416
Roncucci L, Pedroni M, Mariani F
World J Gastroenterol 2017 Jun 21;23(23):4135-4139. doi: 10.3748/wjg.v23.i23.4135. PMID: 28694653Free 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

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    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.

    Curated

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

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