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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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
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

NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.
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
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
High-magnification-chromoscopic-colonoscopy: a role for screening and treatment in attenuated familial adenomatous polyposis?
Hurstone DP, Karegeh MA, Lobo AJ
J Gastroenterol Hepatol 2002 Aug;17(8):929-30. doi: 10.1046/j.1440-1746.2002.02825.x. PMID: 12164972

Curated

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

Suggested Reading

PubMed

Genetics of Colorectal Cancer (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389505
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Strong Hereditary Predispositions to Colorectal Cancer.
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
Attenuated Familial Adenomatous Polyposis: A Phenotypic Diagnosis but Obsolete Term?
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
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.
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
Pathology and genetics of hereditary colorectal cancer.
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
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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

Attenuated Familial Adenomatous Polyposis.
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
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.
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
Attenuated adenomatous polyposis of the large bowel: Present and future.
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
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).
Aretz S, Vasen HF, Olschwang S
Eur J Hum Genet 2011 Jul;19(7) Epub 2011 Feb 2 doi: 10.1038/ejhg.2011.7. PMID: 21368914Free PMC Article

Therapy

Association of physical activity and PM2.5-attributable cardiovascular disease mortality in the United States.
Liu Y, Yan M
Front Public Health 2023;11:1224338. Epub 2023 Sep 28 doi: 10.3389/fpubh.2023.1224338. PMID: 37841709Free PMC Article
A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors.
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
Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature.
Sokic-Milutinovic A
Dig Dis 2019;37(5):400-405. Epub 2019 Mar 5 doi: 10.1159/000497207. PMID: 30836352
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis.
Church J, Kravochuck S
Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575. PMID: 27145315
Results of a prospective thyroid ultrasound screening program in adenomatous polyposis patients.
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

Global, regional, and national burdens of cirrhosis in children and adolescents aged under 19 years from 1990 to 2019.
Zhang C, Liu Y, Zhao H, Wang G
Hepatol Int 2024 Feb;18(1):238-253. Epub 2023 Apr 26 doi: 10.1007/s12072-023-10531-y. PMID: 37101103Free PMC Article
Strong Hereditary Predispositions to Colorectal Cancer.
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
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.
Dallosso AR, Jones S, Azzopardi D, Moskvina V, Al-Tassan N, Williams GT, Idziaszczyk S, Davies DR, Milewski P, Williams S, Beynon J, Sampson JR, Cheadle JP
Hum Mutat 2009 Oct;30(10):1412-8. doi: 10.1002/humu.21089. PMID: 19701947
Attenuated familial adenomatous polyposis (AFAP). A review of the literature.
Knudsen AL, Bisgaard ML, Bülow S
Fam Cancer 2003;2(1):43-55. doi: 10.1023/a:1023286520725. PMID: 14574166

Clinical prediction guides

Strong Hereditary Predispositions to Colorectal Cancer.
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
Attenuated Familial Adenomatous Polyposis: A Phenotypic Diagnosis but Obsolete Term?
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
Attenuated adenomatous polyposis of the large bowel: Present and future.
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
Attenuated polyposis of the large bowel: a morphologic and molecular approach.
de Leon MP, Pedroni M, Roncucci L, Domati F, Rossi G, Magnani G, Pezzi A, Fante R, Bonetti LR
Fam Cancer 2017 Apr;16(2):211-220. doi: 10.1007/s10689-016-9938-9. PMID: 27783336
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
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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    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

    Reviews

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