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Familial colorectal cancer

MedGen UID:
965772
Concept ID:
CN280943
Disease or Syndrome
Synonyms: colorectal cancer, familial; familial colorectal cancer; hereditary colorectal cancer
 
Monarch Initiative: MONDO:0023113

Definition

Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. [from MONDO]

Professional guidelines

PubMed

Cyrany J, Bureš J, Rejchrt S, Kopáčová M
Vnitr Lek 2018 Summer;64(6):635-641. PMID: 30223661
Kennelly RP, Gryfe R, Winter DC
Eur J Surg Oncol 2017 Feb;43(2):294-302. Epub 2016 Jul 27 doi: 10.1016/j.ejso.2016.07.008. PMID: 27546013
Sammour T, Hayes IP, Hill AG, Macrae FA, Winter DC
Expert Rev Gastroenterol Hepatol 2015 Jun;9(6):757-64. Epub 2015 Mar 16 doi: 10.1586/17474124.2015.1026328. PMID: 25779305

Curated

UK NICE Guideline NG151, Colorectal cancer, 2021

Suggested Reading

Recent clinical studies

Etiology

Mangas-Sanjuan C, Jover R
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101798. Epub 2022 Mar 25 doi: 10.1016/j.bpg.2022.101798. PMID: 35988967
Scott P, Anderson K, Singhania M, Cormier R
Int J Mol Sci 2020 Apr 21;21(8) doi: 10.3390/ijms21082891. PMID: 32326161Free PMC Article
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article
Kennelly RP, Gryfe R, Winter DC
Eur J Surg Oncol 2017 Feb;43(2):294-302. Epub 2016 Jul 27 doi: 10.1016/j.ejso.2016.07.008. PMID: 27546013
Del Vecchio Blanco G, Paoluzi OA, Sileri P, Rossi P, Sica G, Pallone F
World J Gastroenterol 2015 Jul 14;21(26):7944-53. doi: 10.3748/wjg.v21.i26.7944. PMID: 26185367Free PMC Article

Diagnosis

Mangas-Sanjuan C, Jover R
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101798. Epub 2022 Mar 25 doi: 10.1016/j.bpg.2022.101798. PMID: 35988967
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article
Boland PM, Yurgelun MB, Boland CR
CA Cancer J Clin 2018 May;68(3):217-231. Epub 2018 Feb 27 doi: 10.3322/caac.21448. PMID: 29485237Free PMC Article
Del Vecchio Blanco G, Paoluzi OA, Sileri P, Rossi P, Sica G, Pallone F
World J Gastroenterol 2015 Jul 14;21(26):7944-53. doi: 10.3748/wjg.v21.i26.7944. PMID: 26185367Free PMC Article
Lung MS, Trainer AH, Campbell I, Lipton L
Intern Med J 2015 May;45(5):482-91. doi: 10.1111/imj.12736. PMID: 25955461

Therapy

Skopelitou D, Miao B, Srivastava A, Kumar A, Kuswick M, Dymerska D, Paramasivam N, Schlesner M, Lubinski J, Hemminki K, Försti A, Bandapalli OR
Int J Mol Sci 2021 Feb 12;22(4) doi: 10.3390/ijms22041837. PMID: 33673279Free PMC Article
Hoffmann S, Crispin A, Lindoerfer D, Sroczynski G, Siebert U, Mansmann U, Consortium F
BMC Gastroenterol 2020 May 5;20(1):131. doi: 10.1186/s12876-020-01247-6. PMID: 32370777Free PMC Article
Kallenberg FGJ, Aalfs CM, The FO, Wientjes CA, Depla AC, Mundt MW, Bossuyt PMM, Dekker E
Fam Cancer 2018 Jul;17(3):371-380. doi: 10.1007/s10689-017-0041-7. PMID: 28936633Free PMC Article
Boursi B, Haynes K, Mamtani R, Yang YX
J Natl Cancer Inst 2015 Jun;107(6):djv084. Epub 2015 Apr 8 doi: 10.1093/jnci/djv084. PMID: 25855726Free PMC Article
Lynch PM
Digestion 2007;76(1):68-76. Epub 2007 Oct 19 doi: 10.1159/000108395. PMID: 17947820

Prognosis

Schubert SA, Morreau H, de Miranda NFCC, van Wezel T
Mutagenesis 2020 Jul 11;35(3):221-231. doi: 10.1093/mutage/gez027. PMID: 31605533Free PMC Article
Jansen AML, Ghosh P, Dakal TC, Slavin TP, Boland CR, Goel A
Fam Cancer 2020 Jan;19(1):1-10. Epub 2019 Sep 25 doi: 10.1007/s10689-019-00145-5. PMID: 31555933Free PMC Article
Mauri G, Sartore-Bianchi A, Russo AG, Marsoni S, Bardelli A, Siena S
Mol Oncol 2019 Feb;13(2):109-131. Epub 2018 Dec 22 doi: 10.1002/1878-0261.12417. PMID: 30520562Free PMC Article
Del Vecchio Blanco G, Paoluzi OA, Sileri P, Rossi P, Sica G, Pallone F
World J Gastroenterol 2015 Jul 14;21(26):7944-53. doi: 10.3748/wjg.v21.i26.7944. PMID: 26185367Free PMC Article
Armelao F, de Pretis G
World J Gastroenterol 2014 Jul 28;20(28):9292-8. doi: 10.3748/wjg.v20.i28.9292. PMID: 25071323Free PMC Article

Clinical prediction guides

Du M, Wang Y, Vallis J, Shariati M, Parfrey PS, Mclaughlin JR, Wang PP, Zhu Y
Cancer Biol Med 2023 Jun 6;20(6):438-51. doi: 10.20892/j.issn.2095-3941.2022.0635. PMID: 37282602Free PMC Article
Jansen AML, Ghosh P, Dakal TC, Slavin TP, Boland CR, Goel A
Fam Cancer 2020 Jan;19(1):1-10. Epub 2019 Sep 25 doi: 10.1007/s10689-019-00145-5. PMID: 31555933Free PMC Article
Del Vecchio Blanco G, Paoluzi OA, Sileri P, Rossi P, Sica G, Pallone F
World J Gastroenterol 2015 Jul 14;21(26):7944-53. doi: 10.3748/wjg.v21.i26.7944. PMID: 26185367Free PMC Article
Sammour T, Hayes IP, Hill AG, Macrae FA, Winter DC
Expert Rev Gastroenterol Hepatol 2015 Jun;9(6):757-64. Epub 2015 Mar 16 doi: 10.1586/17474124.2015.1026328. PMID: 25779305
Armelao F, de Pretis G
World J Gastroenterol 2014 Jul 28;20(28):9292-8. doi: 10.3748/wjg.v20.i28.9292. PMID: 25071323Free PMC Article

Recent systematic reviews

Ciucă A, Moldovan R, Băban A
BMC Cancer 2022 Jan 3;22(1):8. doi: 10.1186/s12885-021-09086-8. PMID: 34980016Free PMC Article
Belhadj S, Terradas M, Munoz-Torres PM, Aiza G, Navarro M, Capellá G, Valle L
Hum Mutat 2020 Sep;41(9):1563-1576. Epub 2020 Jul 28 doi: 10.1002/humu.24057. PMID: 32449991
Nejadtaghi M, Jafari H, Farrokhi E, Samani KG
Curr Probl Cancer 2017 Nov-Dec;41(6):388-397. Epub 2017 Oct 18 doi: 10.1016/j.currproblcancer.2017.10.002. PMID: 29096939
Fardet A, Druesne-Pecollo N, Touvier M, Latino-Martel P
Crit Rev Oncol Hematol 2017 Nov;119:94-112. Epub 2017 Sep 7 doi: 10.1016/j.critrevonc.2017.09.001. PMID: 28927785
Johns LE, Houlston RS
Am J Gastroenterol 2001 Oct;96(10):2992-3003. doi: 10.1111/j.1572-0241.2001.04677.x. PMID: 11693338

Supplemental Content

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    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

    • NICE, 2021
      UK NICE Guideline NG151, Colorectal cancer, 2021

    Consumer resources

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