U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adenomatous polyposis coli, attenuated(AAPC)

MedGen UID:
358117
•Concept ID:
C1868019
•
Disease or Syndrome
Synonym: AAPC

Professional guidelines

PubMed

Revolutionary advances in the diagnosis and treatment of Familial Adenomatous Polyposis.
Edlich R, Cross CL, Wack CA, Chase ME, Gubler K, Long WB 3rd
J Environ Pathol Toxicol Oncol 2009;28(1):47-52. doi: 10.1615/jenvironpatholtoxicoloncol.v28.i1.50. PMID: 19392654
Genotype-phenotype correlations in attenuated adenomatous polyposis coli.
Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B
Am J Hum Genet 1998 Jun;62(6):1290-301. doi: 10.1086/301883. PMID: 9585611Free PMC Article

Recent clinical studies

Etiology

MSH3: a confirmed predisposing gene for adenomatous polyposis.
Villy MC, Masliah-Planchon J, Schnitzler A, Delhomelle H, Buecher B, Filser M, Merchadou K, Golmard L, Melaabi S, Vacher S, Blanluet M, Suybeng V, Corsini C, Dhooge M, Hamzaoui N, Farelly S, Ait Omar A, Benamouzig R, Caumette V, Bahuau M, Cucherousset J, Allory Y, Stoppa-Lyonnet D, Bieche I, Colas C
J Med Genet 2023 Nov 27;60(12):1198-1205. doi: 10.1136/jmg-2023-109341. PMID: 37402566
A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature.
Paramythiotis D, Kyriakidis F, Karlafti E, Koletsa T, Tsakona A, Papalexis P, Ioannidis A, Malliou P, Netta S, Michalopoulos A
Medicina (Kaunas) 2022 Aug 18;58(8) doi: 10.3390/medicina58081116. PMID: 36013583Free PMC Article
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.
Lorca V, Rueda D, Martín-Morales L, Poves C, Fernández-Aceñero MJ, Ruiz-Ponte C, Llovet P, Marrupe D, García-Barberán V, García-Paredes B, Pérez-Segura P, de la Hoya M, Díaz-Rubio E, Caldés T, Garre P
PLoS One 2017;12(11):e0187312. Epub 2017 Nov 2 doi: 10.1371/journal.pone.0187312. PMID: 29095867Free PMC Article
Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.
de Leon MP, Urso ED, Pucciarelli S, Agostini M, Nitti D, Roncucci L, Benatti P, Pedroni M, Kaleci S, Balsamo A, Laudi C, Di Gregorio C, Viel A, Rossi G, Venesio T
Tech Coloproctol 2013 Feb;17(1):79-87. Epub 2012 Sep 14 doi: 10.1007/s10151-012-0887-5. PMID: 22976915

Diagnosis

MSH3: a confirmed predisposing gene for adenomatous polyposis.
Villy MC, Masliah-Planchon J, Schnitzler A, Delhomelle H, Buecher B, Filser M, Merchadou K, Golmard L, Melaabi S, Vacher S, Blanluet M, Suybeng V, Corsini C, Dhooge M, Hamzaoui N, Farelly S, Ait Omar A, Benamouzig R, Caumette V, Bahuau M, Cucherousset J, Allory Y, Stoppa-Lyonnet D, Bieche I, Colas C
J Med Genet 2023 Nov 27;60(12):1198-1205. doi: 10.1136/jmg-2023-109341. PMID: 37402566
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
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.
Aretz S, Vasen HF, Olschwang S
Eur J Hum Genet 2015 Jun;23(6):890-. Epub 2014 Sep 24 doi: 10.1038/ejhg.2014.193. PMID: 25248397Free PMC Article
Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.
de Leon MP, Urso ED, Pucciarelli S, Agostini M, Nitti D, Roncucci L, Benatti P, Pedroni M, Kaleci S, Balsamo A, Laudi C, Di Gregorio C, Viel A, Rossi G, Venesio T
Tech Coloproctol 2013 Feb;17(1):79-87. Epub 2012 Sep 14 doi: 10.1007/s10151-012-0887-5. PMID: 22976915

Prognosis

A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature.
Paramythiotis D, Kyriakidis F, Karlafti E, Koletsa T, Tsakona A, Papalexis P, Ioannidis A, Malliou P, Netta S, Michalopoulos A
Medicina (Kaunas) 2022 Aug 18;58(8) doi: 10.3390/medicina58081116. PMID: 36013583Free PMC Article

Clinical prediction guides

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

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.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...