ArticleGut2004
Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.
Article in Gut, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Meta- and pooled analyses of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and colorectal cancer: a HuGE-GSEC review.American journal of epidemiology · 2009Pooled it
- Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis.Journal of human genetics · 2007Pooled it
- First Evidence of Familial Transmission of Hereditary Gastrointestinal Polyposis Associated with GermlineVeterinary sciences · 2023Article
- CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC.Hereditary cancer in clinical practice · 2021Article
- Aggressive mutation in a familial adenomatous polyposis syndrome family: when phenotype guides clinical surveillance.Journal of gastrointestinal oncology · 2018Article
- Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.Scientific reports · 2017Article
- The genetic basis of colonic adenomatous polyposis syndromes.Hereditary cancer in clinical practice · 2017Review
- Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.Familial cancer · 2016Article
- Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil.World journal of gastroenterology · 2015Article
- Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.The Journal of pathology · 2015Article
- Genetic dissection of the Mom5 modifier locus and evaluation of Mom5 candidate genes.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Article
- Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.European journal of human genetics : EJHG · 2015Article
- The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.The application of clinical genetics · 2015Review
- Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.Familial cancer · 2014Article
- The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.Hereditary cancer in clinical practice · 2013Article
- Association of NAT2 polymorphisms with risk of colorectal adenomas: Evidence from 3,197 cases and 4,681 controls.Experimental and therapeutic medicine · 2012Article
- Hereditary and familial colon cancer.Gastroenterology · 2010Review
- N-Acetyltransferase (NAT) 2 acetylator status and age of tumour onset in patients with sporadic and familial, microsatellite stable (MSS) colorectal cancer.International journal of colorectal disease · 2007Article
- Elevated risk of colorectal cancer associated with the AA genotype of the cyclin D1 A870G polymorphism in an Indian population.Journal of cancer research and clinical oncology · 2006Article
- The history of familial adenomatous polyposis.Familial cancer · 2006Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe have recently shown that the severity of human colonic familial adenomatous polyposis (FAP) varies in a manner consistent with the action of modifier genes. These modifier genes may harbour common alleles which increase the risk of colorectal cancer (CRC) in the general population. Analyses have suggested several common polymorphisms as risk alleles for CRC.
methodsWe determined the association between the severity of colonic FAP (151 patients) and polymorphisms in MTHFR, NAT1, NAT2, GSTM, GSTT, cyclin D1, E-cadherin, and APC. All of these loci have been suggested as influencing the risk of CRC. Colonic FAP severity was quantitated as the number of polyps per colectomy specimen, standardised for colon size. We analysed the relationship between disease severity and genotype at the polymorphic site, making allowance for the position of the germline APC mutation.
resultsWe identified significant associations between more severe disease and the absence of the NAT1*10 genotype in the whole group of patients. In a subset of patients with germline mutations in the so-called "mutation cluster region", there was an association between more severe disease and the presence of NAT2*fast alleles. In the whole patient set, a relatively strong association existed between more severe disease and possession of both the NAT1*non-10 and NAT2*fast genotypes. There was weak evidence for an association between the APCT1493C allele and more severe disease in the whole patient group. No consistent association with disease severity was found for the other polymorphisms.
conclusionThe severity of colonic FAP may be modified by alleles at the NAT1 and/or NAT2 loci. The identity of any functional variation remains unknown as NAT1*10 appears to be non-functional and there is linkage disequilibrium between alleles at multiple sites within these loci which are adjacent on chromosome 8p22. While evidence from this study cannot be conclusive, our data suggest that NAT1 and NAT2 variants may explain an approximately twofold increase in polyp number in the FAP colon.
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