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Familial colorectal cancer type X

MedGen UID:
856172
Concept ID:
C3896578
Neoplastic Process
Synonyms: Familial Colorectal Cancer Type X; familial colorectal cancer type X; Familial colorectal cancer Type X; FCCTX; FCCTX - familial colorectal cancer type X; Hereditary Colorectal Cancer Type X
SNOMED CT: Familial colorectal cancer type X (1197359006); FCCTX - familial colorectal cancer type X (1197359006)
Modes of inheritance:
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.
 
Monarch Initiative: MONDO:0018604
Orphanet: ORPHA440437

Definition

A rare hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern when compared to Lynch syndrome cases. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial colorectal cancer type X

Professional guidelines

PubMed

Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, Gallinger S, Bapat B, Aronson M, Hopper J, Jass J, LeMarchand L, Grove J, Potter J, Newcomb P, Terdiman JP, Conrad P, Moslein G, Goldberg R, Ziogas A, Anton-Culver H, de Andrade M, Siegmund K, Thibodeau SN, Boardman LA, Seminara D
JAMA 2005 Apr 27;293(16):1979-85. doi: 10.1001/jama.293.16.1979. PMID: 15855431Free PMC Article

Suggested Reading

Recent clinical studies

Etiology

Garcia FAO, de Andrade ES, de Campos Reis Galvão H, da Silva Sábato C, Campacci N, de Paula AE, Evangelista AF, Santana IVV, Melendez ME, Reis RM, Palmero EI
Sci Rep 2022 Feb 18;12(1):2846. doi: 10.1038/s41598-022-06782-8. PMID: 35181726Free PMC Article
Martín-Morales L, Garre P, Lorca V, Cazorla M, Llovet P, Bando I, García-Barberan V, González-Morales ML, Esteban-Jurado C, de la Hoya M, Castellví-Bel S, Caldés T
Cancer Prev Res (Phila) 2021 Feb;14(2):185-194. Epub 2020 Oct 28 doi: 10.1158/1940-6207.CAPR-20-0316. PMID: 33115781
Hatfield E, Green JS, Woods MO, Warden G, Parfrey PS
Mol Genet Genomic Med 2018 Nov;6(6):1021-1030. Epub 2018 Oct 9 doi: 10.1002/mgg3.478. PMID: 30300963Free PMC Article
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
Dominguez-Valentin M, Therkildsen C, Da Silva S, Nilbert M
Mod Pathol 2015 Jan;28(1):30-6. Epub 2014 Apr 18 doi: 10.1038/modpathol.2014.49. PMID: 24743215

Diagnosis

Martín-Morales L, Garre P, Lorca V, Cazorla M, Llovet P, Bando I, García-Barberan V, González-Morales ML, Esteban-Jurado C, de la Hoya M, Castellví-Bel S, Caldés T
Cancer Prev Res (Phila) 2021 Feb;14(2):185-194. Epub 2020 Oct 28 doi: 10.1158/1940-6207.CAPR-20-0316. PMID: 33115781
Hatfield E, Green JS, Woods MO, Warden G, Parfrey PS
Mol Genet Genomic Med 2018 Nov;6(6):1021-1030. Epub 2018 Oct 9 doi: 10.1002/mgg3.478. PMID: 30300963Free PMC Article
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
Abdel-Rahman WM, Peltomäki P
Crit Rev Oncog 2008;14(1):1-22; discussion 23-31. doi: 10.1615/critrevoncog.v14.i1.10. PMID: 19105568
Jass JR
World J Gastroenterol 2006 Aug 21;12(31):4943-50. doi: 10.3748/wjg.v12.i31.4943. PMID: 16937488Free PMC Article

Therapy

Church J, Kravochuck S
Dis Colon Rectum 2016 Jun;59(6):565-9. doi: 10.1097/DCR.0000000000000575. PMID: 27145315

Prognosis

Martin-Morales L, Manzano S, Rodrigo-Faus M, Vicente-Barrueco A, Lorca V, Núñez-Moreno G, Bragado P, Porras A, Caldes T, Garre P, Gutierrez-Uzquiza A
Int J Cancer 2023 Jan 15;152(2):283-297. Epub 2022 Oct 3 doi: 10.1002/ijc.34289. PMID: 36093604Free PMC Article
Bucksch K, Zachariae S, Ahadova A, Aretz S, Büttner R, Görgens H, Holinski-Feder E, Hüneburg R, Kloor M, von Knebel Doeberitz M, Ladigan-Badura S, Moeslein G, Morak M, Nattermann J, Nguyen HP, Perne C, Redler S, Schmetz A, Steinke-Lange V, Surowy H, Vangala DB, Weitz J, Loeffler M, Engel C; German Consortium for Familial Intestinal Cancer
Int J Cancer 2022 Jan 1;150(1):56-66. Epub 2021 Sep 14 doi: 10.1002/ijc.33790. PMID: 34469588
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Carethers JM, Stoffel EM
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Shia J
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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
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Hatfield E, Green JS, Woods MO, Warden G, Parfrey PS
Mol Genet Genomic Med 2018 Nov;6(6):1021-1030. Epub 2018 Oct 9 doi: 10.1002/mgg3.478. PMID: 30300963Free PMC Article
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article
Shia J
Semin Diagn Pathol 2015 Sep;32(5):352-61. Epub 2015 Feb 4 doi: 10.1053/j.semdp.2015.02.018. PMID: 25716099Free PMC Article
Shiovitz S, Copeland WK, Passarelli MN, Burnett-Hartman AN, Grady WM, Potter JD, Gallinger S, Buchanan DD, Rosty C, Win AK, Jenkins M, Thibodeau SN, Haile R, Baron JA, Marchand LL, Newcomb PA, Lindor NM; Colon Cancer Family Registry
Br J Cancer 2014 Jul 29;111(3):598-602. Epub 2014 Jun 10 doi: 10.1038/bjc.2014.309. PMID: 24918813Free PMC Article

Recent systematic reviews

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

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