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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

Kastrinos F, Samadder NJ, Burt RW
Gastroenterology 2020 Jan;158(2):389-403. Epub 2019 Nov 21 doi: 10.1053/j.gastro.2019.11.029. PMID: 31759928
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
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
Quintero E, Carrillo M, Gimeno-García AZ, Hernández-Guerra M, Nicolás-Pérez D, Alonso-Abreu I, Díez-Fuentes ML, Abraira V
Gastroenterology 2014 Nov;147(5):1021-30.e1; quiz e16-7. Epub 2014 Aug 13 doi: 10.1053/j.gastro.2014.08.004. PMID: 25127679
Ponz de Leon M
Recent Results Cancer Res 1994;136:203-37. doi: 10.1007/978-3-642-85076-9_15. PMID: 7863096

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
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
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

Clinical prediction guides

Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Joo JE, Walker R, Como J, Preston S, Chai SM, Chu YL, Meyers AL, Pope BJ, Duggan D, Fink JL, Macrae FA, Rosty C, Winship IM, Jenkins MA, Buchanan DD
Fam Cancer 2024 Mar;23(1):9-21. Epub 2023 Dec 8 doi: 10.1007/s10689-023-00351-2. PMID: 38063999Free 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

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.

    Curated

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

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