U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Genetic intestinal polyposis

MedGen UID:
438164
•Concept ID:
C2713443
•
Disease or Syndrome
Synonyms: Familial Intestinal Polyposes; Familial Intestinal Polyposis; Intestinal Polyposes, Familial; Intestinal Polyposis, Familial
SNOMED CT: Familial intestinal polyposis (70921007)
 
Monarch Initiative: MONDO:0018188
Orphanet: ORPHA363314

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
Familial gastric cancer: genetic susceptibility, pathology, and implications for management.
Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F
Lancet Oncol 2015 Feb;16(2):e60-70. doi: 10.1016/S1470-2045(14)71016-2. PMID: 25638682

Recent clinical studies

Etiology

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
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
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
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
Familial adenomatous polyposis.
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

Diagnosis

Familial and hereditary gastric cancer, an overview.
Carneiro F
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101800. Epub 2022 May 4 doi: 10.1016/j.bpg.2022.101800. PMID: 35988963
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
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
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
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
Familial adenomatous polyposis.
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

Protective Role of Spermidine in Colitis and Colon Carcinogenesis.
Gobert AP, Latour YL, Asim M, Barry DP, Allaman MM, Finley JL, Smith TM, McNamara KM, Singh K, Sierra JC, Delgado AG, Luis PB, Schneider C, Washington MK, Piazuelo MB, Zhao S, Coburn LA, Wilson KT
Gastroenterology 2022 Mar;162(3):813-827.e8. Epub 2021 Nov 10 doi: 10.1053/j.gastro.2021.11.005. PMID: 34767785Free PMC Article
Streptococcus thermophilus Inhibits Colorectal Tumorigenesis Through Secreting β-Galactosidase.
Li Q, Hu W, Liu WX, Zhao LY, Huang D, Liu XD, Chan H, Zhang Y, Zeng JD, Coker OO, Kang W, Ng SSM, Zhang L, Wong SH, Gin T, Chan MTV, Wu JL, Yu J, Wu WKK
Gastroenterology 2021 Mar;160(4):1179-1193.e14. Epub 2020 Sep 11 doi: 10.1053/j.gastro.2020.09.003. PMID: 32920015
YYFZBJS ameliorates colorectal cancer progression in Apc(Min/+) mice by remodeling gut microbiota and inhibiting regulatory T-cell generation.
Sui H, Zhang L, Gu K, Chai N, Ji Q, Zhou L, Wang Y, Ren J, Yang L, Zhang B, Hu J, Li Q
Cell Commun Signal 2020 Jul 16;18(1):113. doi: 10.1186/s12964-020-00596-9. PMID: 32677955Free PMC Article
Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
Castellani C, Linnane B, Pranke I, Cresta F, Sermet-Gaudelus I, Peckham D
Semin Respir Crit Care Med 2019 Dec;40(6):701-714. Epub 2019 Nov 3 doi: 10.1055/s-0039-1697961. PMID: 31679154
Mouse Models of Human Gastric Cancer Subtypes With Stomach-Specific CreERT2-Mediated Pathway Alterations.
Seidlitz T, Chen YT, Uhlemann H, Schölch S, Kochall S, Merker SR, Klimova A, Hennig A, Schweitzer C, Pape K, Baretton GB, Welsch T, Aust DE, Weitz J, Koo BK, Stange DE
Gastroenterology 2019 Dec;157(6):1599-1614.e2. Epub 2019 Oct 1 doi: 10.1053/j.gastro.2019.09.026. PMID: 31585123Free PMC Article

Prognosis

Evolving strategies for management of desmoid tumor.
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
Gene of the month: STK11.
Zyla RE, Hahn E, Hodgson A
J Clin Pathol 2021 Nov;74(11):681-685. Epub 2021 Sep 3 doi: 10.1136/jclinpath-2021-207906. PMID: 34479873
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
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
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
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Clinical prediction guides

Familial and hereditary gastric cancer, an overview.
Carneiro F
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101800. Epub 2022 May 4 doi: 10.1016/j.bpg.2022.101800. PMID: 35988963
Intestinal Epithelial TBK1 Prevents Differentiation of T-helper 17 Cells and Tumorigenesis in Mice.
Yang JY, Jie Z, Mathews A, Zhou X, Li Y, Gu M, Xie X, Ko CJ, Cheng X, Qi Y, Estrella JS, Wang J, Sun SC
Gastroenterology 2020 Nov;159(5):1793-1806. Epub 2020 Jul 31 doi: 10.1053/j.gastro.2020.07.047. PMID: 32745468Free 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
Hereditary and familial colon cancer.
Jasperson KW, Tuohy TM, Neklason DW, Burt RW
Gastroenterology 2010 Jun;138(6):2044-58. doi: 10.1053/j.gastro.2010.01.054. PMID: 20420945Free PMC Article
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Recent systematic reviews

Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
Beck SH, Jelsig AM, Yassin HM, Lindberg LJ, Wadt KAW, Karstensen JG
Fam Cancer 2022 Oct;21(4):453-462. Epub 2022 Mar 16 doi: 10.1007/s10689-022-00291-3. PMID: 35292903
Gastric-type adenocarcinoma of the cervix in patients with Peutz-Jeghers syndrome: a systematic review of the literature with proposed screening guidelines.
Gordhandas SB, Kahn R, Sassine D, Aviki EM, Baltich Nelson B, Catchings A, Liu YL, Lakhman Y, Abu-Rustum NR, Park KJ, Mueller JJ
Int J Gynecol Cancer 2022 Jan;32(1):79-88. Epub 2021 Dec 13 doi: 10.1136/ijgc-2021-002997. PMID: 34903560
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.
Jansen AML, Goel A
Clin Gastroenterol Hepatol 2020 Aug;18(9):1949-1960. Epub 2020 Mar 5 doi: 10.1016/j.cgh.2020.02.049. PMID: 32147591Free PMC Article
Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta-analysis.
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
Peutz-Jeghers syndrome: a systematic review and recommendations for management.
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

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.

    Consumer resources

    Reviews

    Related information

    • 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...