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APC-mutation negative familial colorectal cancer

MedGen UID:
851855
•Concept ID:
CN233259
•
Disease or Syndrome

Professional guidelines

PubMed

APC genotype is not a prognostic factor in familial adenomatous polyposis patients with colorectal cancer.
Bertario L, Russo A, Sala P, Varesco L, Crucianelli R, Frattini M, Pierotti MA, Radice P; Hereditary Colorectal Tumors Registry
Dis Colon Rectum 2004 Oct;47(10):1662-9. doi: 10.1007/s10350-004-0652-6. PMID: 15540296
Negative genetic test result in familial adenomatous polyposis: clinical screening implications.
Berk T, Cohen Z, Bapat B, Gallinger S
Dis Colon Rectum 1999 Mar;42(3):307-10; discussion 310-2. doi: 10.1007/BF02236343. PMID: 10223748
Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.
Dihlmann S, Gebert J, Siermann A, Herfarth C, von Knebel Doeberitz M
Cancer Res 1999 Apr 15;59(8):1857-60. PMID: 10213492

Recent clinical studies

Etiology

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.
Lam KK, Sethi R, Tan G, Tomar S, Lo M, Loi C, Tang CL, Tan E, Lai PS, Cheah PY
Genes Chromosomes Cancer 2021 Feb;60(2):61-72. Epub 2020 Oct 29 doi: 10.1002/gcc.22904. PMID: 33094510
Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.
Dahl NA, Sheil A, Knapke S, Geller JI
J Pediatr Hematol Oncol 2016 Jul;38(5):e154-7. doi: 10.1097/MPH.0000000000000493. PMID: 26840078
Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients.
Taki K, Sato Y, Nomura S, Ashihara Y, Kita M, Tajima I, Sugano K, Arai M
Fam Cancer 2016 Apr;15(2):261-5. doi: 10.1007/s10689-015-9857-1. PMID: 26684191
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.
Aceto GM, Fantini F, De Iure S, Di Nicola M, Palka G, Valanzano R, Di Gregorio P, Stigliano V, Genuardi M, Battista P, Cama A, Curia MC
J Exp Clin Cancer Res 2015 Oct 28;34:131. doi: 10.1186/s13046-015-0244-4. PMID: 26511139Free PMC Article
Colorectal cancer with and without microsatellite instability involves different genes.
Salahshor S, Kressner U, Pâhlman L, Glimelius B, Lindmark G, Lindblom A
Genes Chromosomes Cancer 1999 Nov;26(3):247-52. PMID: 10502323

Diagnosis

Adenomatous Polyposis Coli as a Major Regulator of Human Embryonic Stem Cells Self-Renewal.
Preisler L, Ben-Yosef D, Mayshar Y
Stem Cells 2019 Dec;37(12):1505-1515. Epub 2019 Nov 4 doi: 10.1002/stem.3084. PMID: 31461190
Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.
Dahl NA, Sheil A, Knapke S, Geller JI
J Pediatr Hematol Oncol 2016 Jul;38(5):e154-7. doi: 10.1097/MPH.0000000000000493. PMID: 26840078
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.
Aceto GM, Fantini F, De Iure S, Di Nicola M, Palka G, Valanzano R, Di Gregorio P, Stigliano V, Genuardi M, Battista P, Cama A, Curia MC
J Exp Clin Cancer Res 2015 Oct 28;34:131. doi: 10.1186/s13046-015-0244-4. PMID: 26511139Free PMC Article
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
Stekrova J, Sulova M, Kebrdlova V, Zidkova K, Kotlas J, Ilencikova D, Vesela K, Kohoutova M
BMC Med Genet 2007 Apr 5;8:16. doi: 10.1186/1471-2350-8-16. PMID: 17411426Free PMC Article
Familial adenomatous polyposis: genetics and epidemiology.
Varesco L
Tech Coloproctol 2004 Dec;8 Suppl 2:s305-8. doi: 10.1007/s10151-004-0182-1. PMID: 15666112

Therapy

Effect of the non-steroidal anti-inflammatory drug sulindac on colorectal adenomas of uncolectomized familial adenomatous polyposis.
Matsumoto T, Nakamura S, Esaki M, Yao T, Iida M
J Gastroenterol Hepatol 2006 Jan;21(1 Pt 2):251-7. doi: 10.1111/j.1440-1746.2006.04181.x. PMID: 16460482

Prognosis

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.
Lam KK, Sethi R, Tan G, Tomar S, Lo M, Loi C, Tang CL, Tan E, Lai PS, Cheah PY
Genes Chromosomes Cancer 2021 Feb;60(2):61-72. Epub 2020 Oct 29 doi: 10.1002/gcc.22904. PMID: 33094510
Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.
Nieminen TT, Pavicic W, Porkka N, Kankainen M, Järvinen HJ, Lepistö A, Peltomäki P
Oncotarget 2016 Oct 25;7(43):70685-70698. doi: 10.18632/oncotarget.12206. PMID: 27683109Free PMC Article
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.
Aceto GM, Fantini F, De Iure S, Di Nicola M, Palka G, Valanzano R, Di Gregorio P, Stigliano V, Genuardi M, Battista P, Cama A, Curia MC
J Exp Clin Cancer Res 2015 Oct 28;34:131. doi: 10.1186/s13046-015-0244-4. PMID: 26511139Free PMC Article
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
Stekrova J, Sulova M, Kebrdlova V, Zidkova K, Kotlas J, Ilencikova D, Vesela K, Kohoutova M
BMC Med Genet 2007 Apr 5;8:16. doi: 10.1186/1471-2350-8-16. PMID: 17411426Free PMC Article
APC genotype is not a prognostic factor in familial adenomatous polyposis patients with colorectal cancer.
Bertario L, Russo A, Sala P, Varesco L, Crucianelli R, Frattini M, Pierotti MA, Radice P; Hereditary Colorectal Tumors Registry
Dis Colon Rectum 2004 Oct;47(10):1662-9. doi: 10.1007/s10350-004-0652-6. PMID: 15540296

Clinical prediction guides

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.
Lam KK, Sethi R, Tan G, Tomar S, Lo M, Loi C, Tang CL, Tan E, Lai PS, Cheah PY
Genes Chromosomes Cancer 2021 Feb;60(2):61-72. Epub 2020 Oct 29 doi: 10.1002/gcc.22904. PMID: 33094510
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Papp J, Kovacs ME, Matrai Z, Orosz E, Kásler M, Børresen-Dale AL, Olah E
Fam Cancer 2016 Jan;15(1):85-97. doi: 10.1007/s10689-015-9845-5. PMID: 26446593Free PMC Article
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.
Aceto GM, Fantini F, De Iure S, Di Nicola M, Palka G, Valanzano R, Di Gregorio P, Stigliano V, Genuardi M, Battista P, Cama A, Curia MC
J Exp Clin Cancer Res 2015 Oct 28;34:131. doi: 10.1186/s13046-015-0244-4. PMID: 26511139Free PMC Article
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
Stekrova J, Sulova M, Kebrdlova V, Zidkova K, Kotlas J, Ilencikova D, Vesela K, Kohoutova M
BMC Med Genet 2007 Apr 5;8:16. doi: 10.1186/1471-2350-8-16. PMID: 17411426Free PMC Article
Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous.
Renkonen ET, Nieminen P, Abdel-Rahman WM, Moisio AL, Järvelä I, Arte S, Järvinen HJ, Peltomäki P
J Clin Oncol 2005 Aug 20;23(24):5651-9. doi: 10.1200/JCO.2005.14.712. PMID: 16110024

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