Richard S Houlston

Summary

Affiliation: Institute of Cancer Research
Country: UK

Publications

  1. pmc COGENT (COlorectal cancer GENeTics) revisited
    Richard S Houlston
    Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Mutagenesis 27:143-51. 2012
  2. pmc Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    BMC Med Genet 12:23. 2011
  3. pmc Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome
    Nicholas C M Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    BMC Genomics 6:38. 2005
  4. pmc The use of whole genome amplification to study chromosomal changes in prostate cancer: insights into genome-wide signature of preneoplasia associated with cancer progression
    Simon Hughes
    Applied Molecular Oncology, Ontario Cancer Institute, Princess Margaret Hospital, Toronto, Ontario M5G 2M9, Canada
    BMC Genomics 7:65. 2006
  5. pmc Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk
    Lara Bethke
    Section of Cancer Genetics, Institute of Cancer Research, Surrey, UK
    BMC Cancer 7:123. 2007
  6. pmc Identification of low penetrance alleles for lung cancer: the GEnetic Lung CAncer Predisposition Study (GELCAPS)
    Tim Eisen
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    BMC Cancer 8:244. 2008
  7. doi request reprint Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Nat Genet 42:973-7. 2010
  8. ncbi request reprint The search for low-penetrance cancer susceptibility alleles
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    Oncogene 23:6471-6. 2004
  9. pmc Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Nat Genet 40:1426-35. 2008
  10. doi request reprint Low-penetrance susceptibility to hematological malignancy
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Curr Opin Genet Dev 20:245-50. 2010

Detail Information

Publications122 found, 100 shown here

  1. pmc COGENT (COlorectal cancer GENeTics) revisited
    Richard S Houlston
    Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Mutagenesis 27:143-51. 2012
    ..Here, we review the rationale for identifying low-penetrance variants for CRC and the current and future challenges for COGENT...
  2. pmc Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci
    Iina Niittymäki
    Department of Medical Genetics, Genome Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    BMC Med Genet 12:23. 2011
    ....
  3. pmc Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome
    Nicholas C M Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    BMC Genomics 6:38. 2005
    ..It is conceivable that, on the basis of data from other diseases, inherited variation in promoter elements of STK11/LKB1 may cause PJS...
  4. pmc The use of whole genome amplification to study chromosomal changes in prostate cancer: insights into genome-wide signature of preneoplasia associated with cancer progression
    Simon Hughes
    Applied Molecular Oncology, Ontario Cancer Institute, Princess Margaret Hospital, Toronto, Ontario M5G 2M9, Canada
    BMC Genomics 7:65. 2006
    ..This admixture with benign tissue can complicate genomic analyses in CaP. Specifically, when DNA is bulk-extracted the genetic information obtained represents an average for all of the cells within the sample...
  5. pmc Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk
    Lara Bethke
    Section of Cancer Genetics, Institute of Cancer Research, Surrey, UK
    BMC Cancer 7:123. 2007
    ..Cytochrome P450 (CYP) enzymes have the potential to affect colorectal cancer (CRC) risk by determining the genotoxic impact of exogenous carcinogens and levels of sex hormones...
  6. pmc Identification of low penetrance alleles for lung cancer: the GEnetic Lung CAncer Predisposition Study (GELCAPS)
    Tim Eisen
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    BMC Cancer 8:244. 2008
    ....
  7. doi request reprint Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Nat Genet 42:973-7. 2010
    ..33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰). In addition to identifying new CRC risk loci, this analysis provides evidence that additional CRC-associated variants of similar effect size remain to be discovered...
  8. ncbi request reprint The search for low-penetrance cancer susceptibility alleles
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    Oncogene 23:6471-6. 2004
    ..Cancer patients with affected relatives are considerably more informative than unselected cases for such studies...
  9. pmc Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Nat Genet 40:1426-35. 2008
    ..1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). These findings underscore the value of large sample series for discovery and follow-up of genetic variants contributing to the etiology of CRC...
  10. doi request reprint Low-penetrance susceptibility to hematological malignancy
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Curr Opin Genet Dev 20:245-50. 2010
    ..Here we discuss the impact genome-wide association studies are having on our understanding of two of the major hematological malignancies, chronic lymphocytic leukemia and acute lymphoblastic leukemia...
  11. doi request reprint Familial chronic lymphocytic leukemia
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    Curr Hematol Malig Rep 3:221-5. 2008
    ..This article reviews current knowledge relating to inherited susceptibility to CLL and strategies that are being used to identify disease-causing mutations...
  12. doi request reprint A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia
    Maria Chiara Di Bernardo
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 40:1204-10. 2008
    ..32 (rs11083846, PRKD2; P = 3.96 x 10(-9)). These data provide the first evidence for the existence of common, low-penetrance susceptibility to a hematological malignancy and new insights into disease causation in CLL...
  13. doi request reprint Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers
    Yufei Wang
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Carcinogenesis 31:234-8. 2010
    ..There was no evidence of association between 6p21.33 or 15q25.1 variation and risk of lung cancer. This analysis provides evidence that TERT-CLPTM1L variants may influence the risk of lung cancer outside the context of tobacco smoking...
  14. pmc The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression
    Alan M Pittman
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
    Genome Res 19:987-93. 2009
    ..We propose that the novel SNP we have identified is the functional change leading to CRC predisposition through differential SMAD7 expression and, hence, aberrant TGF-beta signaling...
  15. pmc Variants in the GH-IGF axis confer susceptibility to lung cancer
    Matthew F Rudd
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Genome Res 16:693-701. 2006
    ..0205). Our study provides evidence that inherited predisposition to lung cancer is in part mediated through low-penetrance alleles and specifically identifies variants in GH-IGF and DNA damage-response pathways with risk of lung cancer...
  16. doi request reprint Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus
    Dalemari Crowther-Swanepoel
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 19:1840-5. 2010
    ..These four SNPs map to a 3 kb region of the 3'-UTR of IRF4, consistent with the causal basis of the association being mediated through differential IRF4 expression...
  17. doi request reprint Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype
    Gabriele Migliorini
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 122:3298-307. 2013
    ..0001). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to BCP-ALL and the influence of constitutional genotype on disease development. ..
  18. doi request reprint Deciphering the genetics of hereditary non-syndromic colorectal cancer
    Eli Papaemmanuil
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Eur J Hum Genet 16:1477-86. 2008
    ..95, P=0.23; HLOD(dominant)=0.40, HLOD(recessive)=0.20). Our findings are consistent with the hypothesis that variation at 3q22 contributes to the risk of CRC, but this is unlikely to be mediated through a restricted set of alleles...
  19. ncbi request reprint Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia
    Matthew F Rudd
    Sections of Cancer Genetics and Haemato Oncology, Institute of Cancer Research, Sutton, Surrey, UK
    Blood 108:638-44. 2006
    ..68, P = .0006), CHEK2 I157T (OR = 14.83, P = .0008), BRCA2 N372H (OR = 1.45, P = .0032), and BUB1B Q349R (OR = 1.42, P = .0038). Our findings implicate variants in the ATM-BRCA2-CHEK2 DNA damage-response axis with risk of CLL...
  20. doi request reprint The CDH1-160C>A polymorphism is a risk factor for colorectal cancer
    Alan M Pittman
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Int J Cancer 125:1622-5. 2009
    ..Furthermore, our study underscores the importance of conducting association studies using large sample series to demonstrate polymorphic variants conferring modest relative risks...
  21. doi request reprint Dairy products, polymorphisms in the vitamin D receptor gene and colorectal adenoma recurrence
    Richard A Hubner
    Institute of Cancer Research, Section of Cancer Genetics, Sutton SM2 5NG, United Kingdom
    Int J Cancer 123:586-93. 2008
    ..02). These findings indicate dairy products, and in particular milk, have chemopreventive activity against CRA recurrence...
  22. ncbi request reprint Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    Nicholas Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    Clin Cancer Res 12:3209-15. 2006
    ..Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited...
  23. pmc Common 5p15.33 and 6p21.33 variants influence lung cancer risk
    Yufei Wang
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 40:1407-9. 2008
    ..33 (rs3117582, BAT3-MSH5; P(combined) = 4.97 x 10(-10)) and 5p15.33 (rs401681, CLPTM1L; P(combined) = 7.90 x 10(-9))...
  24. pmc Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H
    Alan M Pittman
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    PLoS Genet 6:e1001126. 2010
    ..3 association. These data provide evidence for a functional basis for the non-coding risk variant rs16888589 at 8q23.3 and provides novel insight into the etiological basis of CRC...
  25. ncbi request reprint Genetic variants of UGT1A6 influence risk of colorectal adenoma recurrence
    Richard A Hubner
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom and Division of Epidemiology and Public Health, Medical School, Queen s Medical Centre, University of Nottingham, Nottingham, United Kingdom
    Clin Cancer Res 12:6585-9. 2006
    ..We aimed to further investigate the effect of these genetic variants on the development of colorectal neoplasia...
  26. pmc Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk
    Yufei Wang
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    PLoS ONE 6:e19085. 2011
    ..09, 95% CI: 0.94-1.28). This study affirms the 15q25 association with smoking and is consistent with an indirect link between genotype and lung cancer risk...
  27. doi request reprint Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
    Alan M Pittman
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Hum Mol Genet 17:3720-7. 2008
    ..The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression...
  28. ncbi request reprint MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer
    Richard A Hubner
    Section of Cancer Genetics, Institute of Cancer Rsearch, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 16:1072-7. 2007
    ..Stratification by MSI status should aid future studies investigating the complex relationships between genotype, environmental factors and CRC risk...
  29. pmc Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study
    Peter Broderick
    Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Cancer Res 69:6633-41. 2009
    ..08 x 10(-6)) and 10q23.31 (rs1926203; P = 1.28 x 10(-6)). These data indicate few common variants account for 1% of the excess familial risk underscoring the necessity of having additional large sample series for gene discovery...
  30. pmc A high-density SNP genome-wide linkage search of 206 families identifies susceptibility loci for chronic lymphocytic leukemia
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK
    Blood 110:3326-33. 2007
    ..002). None of the regions coincided with areas of common chromosomal abnormalities frequently observed in CLL. These findings provide direct evidence for Mendelian predisposition to CLL and evidence for the location of disease loci...
  31. doi request reprint CYP3A variation, premenopausal estrone levels, and breast cancer risk
    Nichola Johnson
    The Breakthrough Breast Cancer Research Centre, Division of Breast Cancer Research, Institute of Cancer Research, London, UK
    J Natl Cancer Inst 104:657-69. 2012
    ..Our aim was to identify common variants in genes involved in sex steroid synthesis or metabolism that are associated with hormone levels and the risk of breast cancer in premenopausal women...
  32. doi request reprint Allergy and glioma risk: test of association by genotype
    Sara E Dobbins
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Int J Cancer 128:1736-40. 2011
    ..10; 95% CI: 1.01-1.19). These data provide evidence for a correlation between asthma susceptibility and glioma risk and illustrate the value of using genetics as an investigative tool for developing etiological hypotheses...
  33. pmc Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition
    Peter Broderick
    Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK
    BMC Cancer 6:243. 2006
    ..It is conceivable that germline sequence variation in other BER pathway genes such as NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 also contribute to CRC susceptibility...
  34. doi request reprint Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk
    Dalemari Crowther-Swanepoel
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Br J Haematol 150:473-9. 2010
    ..CLL risk increased with increasing numbers of risk alleles (P(trend) = 1.40 x 10(-15)), consistent with a polygenic model of disease susceptibility. These data validate the relationship between common variation and risk of CLL...
  35. doi request reprint MLH1-93G > A is a risk factor for MSI colorectal cancer
    Nicola Whiffin
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Carcinogenesis 32:1157-61. 2011
    ..These data provide further evidence that MLH1-93G > A is a low-penetrance variant for CRC and support the proposition that MLH1-93G > A acts as marker for a somatic event defining a specific CRC subtype...
  36. doi request reprint Genetic variation in CXCR4 and risk of chronic lymphocytic leukemia
    Dalemari Crowther-Swanepoel
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, United Kingdom
    Blood 114:4843-6. 2009
    ..Our analysis provides no evidence that common variation in CXCR4 defined by rs228014 influences the risk of CLL, but that functional coding mutations in CXCR4 may contribute to familial CLL...
  37. doi request reprint Variation in TP63 is associated with lung adenocarcinoma in the UK population
    Yufei Wang
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Cancer Epidemiol Biomarkers Prev 20:1453-62. 2011
    ..Variation at TP63 has recently been shown to be associated with lung adenocarcinoma in the Asian population...
  38. doi request reprint Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk
    Fay J Hosking
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 115:4472-7. 2010
    ..Our findings make it unlikely that levels of measured homozygosity, caused by autozygosity, uniparental isodisomy, or hemizygosity, play a major role in defining BCP-ALL risk in predominantly outbred populations...
  39. ncbi request reprint A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
    Peter Broderick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK
    Nat Genet 39:1315-7. 2007
    ..Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12))...
  40. ncbi request reprint Genetic variation in the DNA repair genes is predictive of outcome in lung cancer
    Athena Matakidou
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Hum Mol Genet 16:2333-40. 2007
    ..Our data indicate that the pathway-based approach has the potential to generate prognostic markers of clinical outcome...
  41. doi request reprint A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia
    Helen E Speedy
    1 Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK 2
    Nat Genet 46:56-60. 2014
    ..33 (TERT, rs10069690, P = 1.12 × 10(-10)) and 8q22.3 (rs2511714, P = 2.90 × 10(-9)). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CLL. ..
  42. pmc Deciphering the 8q24.21 association for glioma
    Victor Enciso-Mora
    Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 22:2293-302. 2013
    ..These data provide additional insights into the aetiological basis of glioma development...
  43. ncbi request reprint Lack of evidence that p53 Arg72Pro influences lung cancer prognosis: an analysis of survival in 619 female patients
    Athena Matakidou
    Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Lung Cancer 57:207-12. 2007
    ....
  44. pmc Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation
    Lindsay B Robertson
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Fam Cancer 9:413-21. 2010
    ..Our findings provide no evidence that p16(INK4A)/p14(ARF) and p53 mutations contribute significantly to familial glioma...
  45. doi request reprint Comprehensive evaluation of the impact of 14 genetic variants on colorectal cancer phenotype and risk
    Steven J Lubbe
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Epidemiol 175:1-10. 2012
    ..Although the discriminatory attributes of the 14 CRC susceptibility loci for individual risk prediction are poor (area under the curve = 0.58), they may allow subgroups of the population at different CRC risks to be distinguished...
  46. doi request reprint Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia
    Elli Papaemmanuil
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 41:1006-10. 2009
    ..Notably, all three risk variants map to genes involved in transcriptional regulation and differentiation of B-cell progenitors...
  47. doi request reprint Ornithine decarboxylase G316A genotype is prognostic for colorectal adenoma recurrence and predicts efficacy of aspirin chemoprevention
    Richard A Hubner
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    Clin Cancer Res 14:2303-9. 2008
    ..We investigated the influence of ODC G316A on the chemopreventive activity of aspirin in colorectal adenoma (CRA) recurrence...
  48. ncbi request reprint Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives
    Emily L Webb
    Section of Cancer Genetics, Institute of Cancer Research, Surrey, UK
    Hum Mol Genet 15:3263-71. 2006
    ..shtml in order to facilitate the identification of low penetrance CRC susceptibility alleles through pooled analyses...
  49. doi request reprint FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma
    Yussanne P Ma
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Rd, Sutton, Surrey, United Kingdom
    Blood 119:1029-31. 2012
    ..59, 95% confidence interval: 1.26-2.02; P = .000111). These data provide evidence that genetic variation in FGFR2 influences radiation-induced breast cancer risk...
  50. doi request reprint Interaction between 5 genetic variants and allergy in glioma risk
    Minouk J Schoemaker
    Institute of Cancer Research, Sutton, United Kingdom
    Am J Epidemiol 171:1165-73. 2010
    ..70, P = 0.017). Case-only analyses provided further support for atopy interactions for rs4977756 and rs498872. This study provides evidence for possible gene-environment interactions in glioma development...
  51. pmc A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk
    Emily Webb
    Institute of Cancer Research, Surrey, UK
    Eur J Hum Genet 17:1507-14. 2009
    ....
  52. doi request reprint rs2072135, a low-penetrance variant for chronic lymphocytic leukaemia?
    Georgina P Sava
    Division of Genetics and Epidemiology, Molecular and Population Genetics, Institute of Cancer Research, Sutton, UK
    Br J Haematol 162:221-8. 2013
    ..While not attaining statistical significance (combined P-value = 1 × 10(-4)), rs2072135 defines a promising risk locus for CLL. Incorporating eQTL information offers an attractive strategy for selecting SNPs from GWAS for validation...
  53. doi request reprint The silent mutational landscape of infant MLL-AF4 pro-B acute lymphoblastic leukemia
    Sara E Dobbins
    Molecular and Population Genetics, Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    Genes Chromosomes Cancer 52:954-60. 2013
    ..Our analysis revealed few somatic changes (copy number abnormalities, loss of heterozygosity, or single nucleotide variants), demonstrating that only a very small number of mutations are necessary to generate infant MLL-leukemia...
  54. ncbi request reprint Polymorphisms in PTGS1, PTGS2 and IL-10 do not influence colorectal adenoma recurrence in the context of a randomized aspirin intervention trial
    Richard A Hubner
    Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, United Kingdom
    Int J Cancer 121:2001-4. 2007
    ..These data indicate that these polymorphisms are unlikely to influence CRA recurrence and cannot be used to identify individuals who derive benefit from aspirin intervention...
  55. doi request reprint Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study
    Olivia Fletcher
    Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, UK
    J Natl Cancer Inst 103:425-35. 2011
    ..Genome-wide association studies have identified several common genetic variants associated with breast cancer risk. It is likely, however, that a substantial proportion of such loci have not yet been discovered...
  56. pmc A high-density SNP genomewide linkage scan for chronic lymphocytic leukemia-susceptibility loci
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    Am J Hum Genet 77:420-9. 2005
    ..01). None of the regions coincided with areas of common chromosomal abnormalities frequently observed for CLL. These findings strengthen the argument for an inherited predisposition to CLL and related B-cell LPDs...
  57. doi request reprint Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk
    Daniel Chubb
    1 Division of Genetics and Epidemiology, Institute of Cancer Research, Surrey, UK 2
    Nat Genet 45:1221-5. 2013
    ..67 × 10(-9)) and 22q13.1 (rs877529, CBX7, P = 7.63 × 10(-16)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy, as well as insight into the biological basis of predisposition. ..
  58. doi request reprint Plasminogen activator inhibitor variants PAI-1 A15T and PAI-2 S413C influence lung cancer prognosis
    Maria Chiara Di Bernardo
    Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
    Lung Cancer 65:237-41. 2009
    ..An association was also detected between OS in NSCLC and carrier status for PAI-2 413C (HR=1.13; 95% CI: 1.01-1.24). These common genetic variants identified warrant further evaluation as promising prognostic markers of patient outcome...
  59. pmc Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, SM2 5NG, UK
    Nucleic Acids Res 32:e164. 2004
    ..The performance of the SNP array, both in terms of efficiency and precision, indicates that such platforms will become the dominant technology for performing genomewide linkage searches...
  60. ncbi request reprint The P2X7 receptor gene A1513C polymorphism does not contribute to risk of familial or sporadic chronic lymphocytic leukemia
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey
    Cancer Epidemiol Biomarkers Prev 13:1065-7. 2004
    ..80-1.31). A meta-analysis of this study and five other smaller published studies provides no evidence of relationship between this P2X7 polymorphism and risk of CLL (odds ratio = 0.99, 95% confidence interval: 0.74-1.32)...
  61. ncbi request reprint MTHFR polymorphisms and risk of chronic lymphocytic leukemia
    Matthew F Rudd
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
    Cancer Epidemiol Biomarkers Prev 13:2268-70. 2004
    ..97 (95% CI, 0.79-1.18) and 0.88 (95% CI, 0.62-1.24), respectively. This data indicate that the MTHFR polymorphisms C677T and A1298C do not significantly contribute to an inherited genetic susceptibility to CLL...
  62. doi request reprint Variation at 7p12.2 and 10q21.2 influences childhood acute lymphoblastic leukemia risk in the Thai population and may contribute to racial differences in leukemia incidence
    Jayaram Vijayakrishnan
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Leuk Lymphoma 51:1870-4. 2010
    ..36 for Thai/Caucasian). These differences, combined with differences in linkage disequilibrium structure between populations or differences in effect size between populations, may contribute to racial differences in ALL incidence...
  63. ncbi request reprint A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Belgium
    Clin Dysmorphol 15:197-202. 2006
    ..We demonstrate that this dysplasia is due to a glycine to alanine substitution in the COL2A1 gene (p.Gly862Ala), thereby expanding the phenotypic spectrum of dysplasias associated with defects in type II collagen...
  64. doi request reprint MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia
    Fay J Hosking
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 117:1633-40. 2011
    ..We conclude that major histocompatibility complex-defined variation in immune-mediated response is unlikely to be a major risk factor for BCP-ALL...
  65. doi request reprint Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients
    Steven J Lubbe
    Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Carcinogenesis 33:108-12. 2012
    ..These findings are consistent with pathogenic variants in loci differentially impacting on distinct morphogenetic pathways consistent with aetiologically different risk factors in the development of colorectal cancer...
  66. pmc Inter-relationship between microsatellite instability, thymidylate synthase expression, and p53 status in colorectal cancer: implications for chemoresistance
    Sanjay Popat
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    BMC Cancer 6:150. 2006
    ..There is, however, little data on the inter-relationship between these three markers. We sought to investigate whether relationships exist between these markers that might contribute to CRC phenotypes...
  67. doi request reprint A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)
    Victor Enciso-Mora
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Nat Genet 42:1126-30. 2010
    ..70, combined P = 2.84 × 10(-50)). These data provide new insight into the pathogenesis of cHL...
  68. pmc Evaluation of germline BMP4 mutation as a cause of colorectal cancer
    Steven J Lubbe
    Institute of Cancer Research, Sutton, UK
    Hum Mutat 32:E1928-38. 2011
    ..These findings suggest mutation of BMP4is a cause of CRC and the value of protein-based modelling in the elucidation of rare disease-causing variants...
  69. doi request reprint Inherited genetic susceptibility to monoclonal B-cell lymphocytosis
    Dalemari Crowther-Swanepoel
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 116:5957-60. 2010
    ..27; P = 7.75 × 10(-3)), rs2456449 (OR = 1.31; P = 3.14 × 10(-3)), and rs735665 (OR = 1.63; P = 6.86 × 10(-6)). Collectively, these data provide support for genetic variation influencing CLL risk through predisposition to MBL...
  70. pmc Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations
    Victor Enciso-Mora
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK
    Eur J Hum Genet 18:909-14. 2010
    ....
  71. doi request reprint Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk
    Dalemari Crowther-Swanepoel
    Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:132-6. 2010
    ..2 (rs783540, CPEB1; OR = 1.18; P = 3.67 x 10(-6)) and 18q21.1 (rs1036935; OR = 1.22; P = 2.28 x 10(-6)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy...
  72. ncbi request reprint MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations
    Richard A Hubner
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Int J Cancer 120:1027-35. 2007
    ....
  73. ncbi request reprint Evaluation of xeroderma pigmentosum XPA, XPC, XPD, XPF, XPB, XPG and DDB2 genes in familial early-onset lung cancer predisposition
    Athena Matakidou
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Int J Cancer 119:964-7. 2006
    ..Two of the novel missense changes are predicted to be functionally deleterious. Our findings are compatible with XP heterozygosity being a risk factor for lung cancer susceptibility...
  74. ncbi request reprint Meta-analysis and pooled re-analysis of copy number changes in colorectal cancer detected by comparative genomic hybridization
    Simon Hughes
    Sections of Cancer Genetics, Institute of Cancer Research, 15, Cotswold Road, Surrey SM2 5NG, UK
    Anticancer Res 26:3439-44. 2006
    ..However, a problem with many studies is the limited cohort size, making the significance of some findings unclear...
  75. ncbi request reprint ATM mutations are rare in familial chronic lymphocytic leukemia
    Martin R Yuille
    Academic Department of Haematology and Cytogenetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 100:603-9. 2002
    ..Common ATM missense mutations were not overrepresented. The data support previous observations that ATM mutation is associated with B-CLL. However, ATM mutations do not account for familial clustering of the disease...
  76. ncbi request reprint Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma
    Nicholas Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    Invest Ophthalmol Vis Sci 44:458-62. 2003
    ....
  77. ncbi request reprint BRAF mutations are detectable in conjunctival but not uveal melanomas
    Hayley E Spendlove
    Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK
    Melanoma Res 14:449-52. 2004
    ..We conclude that uveal melanomas arise independently of oncogenic BRAF mutations, but the development of a proportion of conjunctival tumours involves mutation of this gene...
  78. ncbi request reprint Relationship between thymidylate synthase (TS) genotype and TS expression: a tissue microarray analysis of colorectal cancers
    Sanjay Popat
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, England
    Int J Surg Pathol 13:127-33. 2005
    ..0). The relationship between 5' TS genotype and TS expression is not simple. For clinical trials incorporating TS status, detection of TS expression in tumors by immunohistochemistry must still remain the benchmark over genotype...
  79. pmc Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia
    Amy L Sherborne
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Haematologica 96:1049-54. 2011
    ..Here, we review the rationale for identifying genetic risk variants for acute lymphoblastic leukemia and our proposed strategy for establishing the International Childhood Acute Lymphoblastic Leukaemia Genetics Consortium...
  80. ncbi request reprint Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer
    Christina Fleischmann
    Section of Cancer Genetics, Institute of Cancer Research, Surrey, United Kingdom
    Int J Cancer 109:554-8. 2004
    ..No biallelic mutations were detected among 354 controls. These results confirm that biallelic MYH mutations confer susceptibility to colorectal cancer but are unlikely to account for more than 3% of early-onset colorectal cancer...
  81. doi request reprint Common variation at 10p12.31 near MLLT10 influences meningioma risk
    Sara E Dobbins
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Nat Genet 43:825-7. 2011
    ..We identified a new susceptibility locus for meningioma at 10p12.31 (MLLT10, rs11012732, odds ratio = 1.46, P(combined) = 1.88 × 10(-14)). This finding advances our understanding of the genetic basis of meningioma development...
  82. ncbi request reprint A novel gene for neonatal diabetes maps to chromosome 10p12.1-p13
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Diabetes 52:2636-8. 2003
    ..25). There is a strong history of type 2 diabetes in carriers of the disease gene. It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene...
  83. ncbi request reprint Mutations in PTF1A cause pancreatic and cerebellar agenesis
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
    Nat Genet 36:1301-5. 2004
    ..The essential role of PTF1A in normal cerebellar development was confirmed by detailed neuropathological analysis of Ptf1a(-/-) mice...
  84. ncbi request reprint Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 111:1625-33. 2008
    ..To facilitate the identification of prognostic markers through pooled analyses, we have made all data from our analysis publicly available...
  85. ncbi request reprint The predicted impact of coding single nucleotide polymorphisms database
    Matthew F Rudd
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
    Cancer Epidemiol Biomarkers Prev 14:2598-604. 2005
    ..icr.ac.uk/cancgen/molgen/MolPopGen_PICS_database.htm. Predicted Impact of Coding SNPs is an ongoing project that will continue to curate and release data on the putative functionality of coding SNPs...
  86. ncbi request reprint Case-control study of familial lung cancer risks in UK women
    Athena Matakidou
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Int J Cancer 116:445-50. 2005
    ..23; 95% CI, 0.65-2.31). Results confirm previous findings and support the role of a familial predisposition to lung cancer...
  87. ncbi request reprint Relative frequency and morphology of cancers in STK11 mutation carriers
    Wendy Lim
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Gastroenterology 126:1788-94. 2004
    ..There is limited data on the spectrum and risk for cancer associated with germline serine/threonine protein kinase 11 (STK11) mutations that cause Peutz-Jeghers syndrome (PJS)...
  88. pmc Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk
    Amy L Sherborne
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:492-4. 2010
    ..3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell lineage...
  89. doi request reprint Implications of familial colorectal cancer risk profiles and microsatellite instability status
    Steven J Lubbe
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    J Clin Oncol 27:2238-44. 2009
    ..To quantify familial CRC risks associated with mismatch repair (MMR) deficient and microsatellite stable (MSS) tumors, we analyzed 2,941 population-based cases of CRC...
  90. doi request reprint Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    Steven J Lubbe
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    J Clin Oncol 27:3975-80. 2009
    ..Precise quantification of the CRC risk and the phenotype associated with MUTYH mutations is relevant to the counseling, surveillance, and clinical management of at-risk individuals...
  91. ncbi request reprint Folate metabolism polymorphisms influence risk of colorectal adenoma recurrence
    Richard A Hubner
    Institute of Cancer Research, Section of Cancer Genetics, 15 Cotswold Road, Sutton SM2 5NG, United Kingdom
    Cancer Epidemiol Biomarkers Prev 15:1607-13. 2006
    ..These findings provide additional support for the hypothesis that germ line variants in folate metabolism genes influence the development of colorectal adenomas...
  92. pmc Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial
    Rachel Wade
    Clinical Trial Service Unit, University of Oxford, Oxford, UK
    Haematologica 96:1496-503. 2011
    ..Identifying genetic variants that influence patients' outcome and response to treatment may provide important insights into the biology of the disease...
  93. doi request reprint Genome-wide association studies for detecting cancer susceptibility
    Fay J Hosking
    Section of Cancer Genetics, Institute of Cancer Research, Surrey, UK
    Br Med Bull 97:27-46. 2011
    ..Annotation of low frequency variation coupled with next-generation sequencing is making the search for rare disease-causing variants a realistic prospect...
  94. ncbi request reprint Causation of chronic lymphocytic leukemia--insights from familial disease
    Richard S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Leuk Res 27:871-6. 2003
    ..Here, we review the current status of knowledge about inherited susceptibility to CLL...
  95. ncbi request reprint Analysis of familial male breast cancer for germline mutations in CHEK2
    Nayanta Sodha
    Royal Marsden NHS Trust, Downs Road, Sutton SM2 5PT, UK
    Cancer Lett 215:187-9. 2004
    ..One individual was found to harbour the 1100delC variant. No other mutations were identified. Variants other than 1100delC are rare in male breast cancer...
  96. ncbi request reprint Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?
    Karen T Barker
    Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
    Eur J Hum Genet 11:665-70. 2003
    ..It is probable that dysfunction of this pathway is the basis of other disorders especially those typified by asymmetric overgrowth...
  97. pmc What are genome-wide association studies telling us about B-cell tumor development?
    Amy L Sherborne
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    Oncotarget 1:367-72. 2010
    ....
  98. ncbi request reprint Thymidylate synthase expression and prognosis in colorectal cancer: a systematic review and meta-analysis
    Sanjay Popat
    Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK
    J Clin Oncol 22:529-36. 2004
    ..To derive a more precise estimate of the prognostic significance of TS expression, we have reviewed published studies and carried out a meta-analysis...
  99. ncbi request reprint Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia
    Alison Condie
    Academic Department of Hematology and Cytogenetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG UK
    Leuk Lymphoma 43:1849-53. 2002
    ..The data suggests that while FANCA mutations are rare, FANCA mutations may contribute to the development of the disease in a subset of AML...
  100. ncbi request reprint Relationship between chromosome 18q status and colorectal cancer prognosis: a prospective, blinded analysis of 280 patients
    Sanjay Popat
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Anticancer Res 27:627-33. 2007
    ..The relationship between chromosome 18q allelic imbalance (AI) and survival in colorectal cancer (CRC) is unclear, and study design may have contributed to inconsistent results previously reported...
  101. ncbi request reprint A robust method for detecting CHK2/RAD53 mutations in genomic DNA
    Nayanta Sodha
    Royal Marsden NHS Trust, Surrey, UK
    Hum Mutat 19:173-7. 2002
    ..To circumvent this problem, we have developed a strategy, based on long-range PCR, to screen the functional copy of CHK2. Using this approach it is possible to carry out a comprehensive mutational analysis of CHK2 from genomic DNA...