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Article
Telomere reduction in human colorectal carcinoma and with ageing
WE have hypothesized that end-to-end chromosome fusions observed in some tumours could play a part in genetic instability associated with tumorigenesis and that fusion may result from the loss of the long str...
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Article
Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer
HEREDITARY nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases1. Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of this disease2–8. In particu...
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Article
Genetic instability occurs in the majority of young patients with colorectal cancer
Replication errors (RER) associated with genetic instability have been found in cancers of several different types and particularly in the tumours of patients with hereditary non-polyposis colorectal cancer (H...
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Chapter
The genetics of familial colon cancer
In developed countries, colorectal cancer is the second most common cause of death due to malignancy after lung cancer in males and third most common after lung and breast cancer in females. In the UK this man...
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Article
Early-onset colorectal cancer with stable microsatellite DNA and near-diploid chromosomes
Colorectal cancer has been described in terms of genetic instability selectively affecting either microsatellite sequences (MIN) or chromosome number and structure (CIN). A subgroup with apparently stable, nea...
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Article
Mutation frequency in coding and non-coding repeat sequences in mismatch repair deficient cells derived from normal human tissue
Repetitive tracts within the coding regions of TGFBR2 and BAX are frequently mutated in mismatch repair deficient tumours and are implicated in tumour progression. However, there has been little study of the bala...
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Article
Molecular genetics in gastroenterology: from research success to clinical application?
Advances in molecular genetics have aided our understanding of disease pathogenesis and have helped in making therapeutic decisions. Knowledge is still evolving, however, and care must be taken in extrapolatin...
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Article
Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH
Background: Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening metho...
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Article
Open AccessChromatin structure and evolution in the human genome
Evolutionary rates are not constant across the human genome but genes in close proximity have been shown to experience similar levels of divergence and selection. The higher-order organisation of chromosomes h...
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Article
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
Using a multistage genetic association approach comprising 7,480 affected individuals and 7,779 controls, we identified markers in chromosomal region 8q24 associated with colorectal cancer. In stage 1, we geno...
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Article
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk...
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Article
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
In a genome-wide association study to identify loci associated with colorectal cancer (CRC) risk, we genotyped 555,510 SNPs in 1,012 early-onset Scottish CRC cases and 1,012 controls (phase 1). In phase 2, we ...
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Article
New insights into the aetiology of colorectal cancer from genome-wide association studies
Recent studies have identified common genetic variants that contribute to colorectal cancer aetiology, providing new insight into the genetic architecture of the disease. Associations identified so far suggest...
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Chapter
Polyposis Syndromes and Colorectal Cancer Predisposition
Colorectal polyps are common, affecting 25% of the population by age 75 years. However, the presence of multiple polyps, particularly in association with a personal or family history of colorectal cancer, shou...
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Article
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone
Stuart Ralston and colleagues report results of a genome-wide association study for Paget's disease of bone. Their work identifies common variants at three loci associated with risk of this disease.
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Article
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
Ian Tomlinson, Richard Houlston, Malcolm Dunlop and colleagues report results of a large genome-wide association study of colorectal cancer. They identify four new risk loci and suggest that many more loci of ...
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Article
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
Richard Houlston and colleagues report a genome-wide association study for colorectal cancer. They report three loci newly associated with colorectal cancer, bringing the total number of common susceptibility ...
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Article
Open AccessStatin use and association with colorectal cancer survival and risk: case control study with prescription data linkage
In Scotland colorectal cancer (CRC) is the third most common cancer and a leading cause of cancer death. Epidemiological studies have reported conflicting associations between statins and CRC risk and there is...
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Article
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with seru...
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Article
Open AccessA new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer
Genome-wide association studies (GWAS) of colorectal cancer (CRC) have identified 23 susceptibility loci thus far. Analyses of previously conducted GWAS indicate additional risk loci are yet to be discovered. ...
