title: A retrospective observational study of the relationship between single nucleotide polymorphisms associated with the risk of developing colorectal cancer and survival.
abstract: BACKGROUND
  There is variability in clinical outcome for patients with apparently the same stage colorectal cancer (CRC). Single nucleotide polymorphisms (SNPs) mapping to chromosomes 1q41, 3q26.2, 6p21, 8q23.3, 8q24.21, 10p14, 11q13, 11q23.1, 12q13.13, 14q22, 14q22.2, 15q13.3, 16q22.1, 18q21.1, 19q13.11, 20p12, 20p12.3, 20q13.33 and Xp22 have robustly been shown to be associated with the risk of developing CRC. Since germline variation can also influence patient outcome the relationship between these SNPs and patient survivorship from CRC was examined.
  
  
  METHODS
  All enrolled into the National Study of Colorectal Cancer Genetics (NSCCG) were genotyped for 1q41, 3q26.2, 6p21, 8q23.3, 8q24.21, 10p14, 11q13, 11q23.1, 12q13.13, 14q22, 14q22.2, 15q13.3, 16q22.1, 18q21.1, 19q13.11, 20p12, 20p12.3, 20q13.33 and xp22 SNPs. Linking this information to the National Cancer Data Repository allowed patient genotype to be related to survival.
  
  
  RESULTS
  The linked dataset consisted of 4,327 individuals. 14q22.22 genotype defined by the SNP rs4444235 showed a significant association with overall survival. Specifically, the C allele was associated with poorer observed survival (per allele hazard ratio 1.13, 95% confidence interval 1.05-1.22, P = 0.0015).
  
  
  CONCLUSIONS
  The CRC susceptibility SNP rs4444235 also appears to exert an influence in modulating patient survival and warrants further evaluation as a potential prognostic marker.
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds LS9 7TF, United Kingdom.
authors.forename: Eva J A
authors.initials: EJ
authors.lastname: Morris
authors.affiliation: Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, United Kingdom.
authors.forename: Steve
authors.initials: S
authors.lastname: Penegar
authors.affiliation: Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, United Kingdom.
authors.forename: Nicola
authors.initials: N
authors.lastname: Whiffin
authors.affiliation: Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, United Kingdom.
authors.forename: Peter
authors.initials: P
authors.lastname: Broderick
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds LS9 7TF, United Kingdom.
authors.forename: D Timothy
authors.initials: DT
authors.lastname: Bishop
authors.affiliation: Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds LS9 7TF, United Kingdom.
authors.forename: Emma
authors.initials: E
authors.lastname: Northwood
authors.affiliation: Pathology and Tumour Biology, Leeds Institute of Cancer and Pathology, Level 4 Wellcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, United Kingdom.
authors.forename: Philip
authors.initials: P
authors.lastname: Quirke
authors.affiliation: John Goligher Colorectal Unit, Leeds Teaching Hospitals, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, United Kingdom; National Cancer Intelligence Network, 18th Floor Portland House, Bressenden Place, London, SW1E 5RS, United Kingdom.
authors.forename: Paul
authors.initials: P
authors.lastname: Finan
authors.affiliation: Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, United Kingdom.
authors.forename: Richard S
authors.initials: RS
authors.lastname: Houlston
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002883:Chromosomes, Human, Pair 14; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D004198:Disease Susceptibility; D005260:Female; D008040:Genetic Linkage; D056426:Genetic Loci; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D016016:Proportional Hazards Models; D012189:Retrospective Studies; D015996:Survival Rate