Richard Houlston

Summary

Affiliation: Institute of Cancer Research
Country: UK

Publications

  1. ncbi request reprint A method for determining familial cancer risks in clinical practice
    R S Houlston
    Section of Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK
    Dis Markers 13:49-55. 1996
  2. doi request reprint [Identification of low-penetrance alleles associated with colon cancer risk]
    Richard Houlston
    ICR, Royaume Uni, Section of Cancer, Genetics Institute of Cancer Research, 15 Cotswold Road Belmont, Sutton SM2 5NG
    Med Sci (Paris) 25:39-41. 2009
  3. 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
  4. ncbi request reprint Polymorphisms and colorectal tumor risk
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Gastroenterology 121:282-301. 2001
  5. pmc What we could do now: molecular pathology of colorectal cancer
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Mol Pathol 54:206-14. 2001
  6. ncbi request reprint Glutathione S-transferase mu1 (GSTM1) status and bladder cancer risk: a meta-analysis
    L E Johns
    Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK
    Mutagenesis 15:399-404. 2000
  7. ncbi request reprint CYP1A1 polymorphisms and lung cancer risk: a meta-analysis
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Pharmacogenetics 10:105-14. 2000
  8. ncbi request reprint Glutathione S-transferase M1 status and lung cancer risk: a meta-analysis
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Cancer Epidemiol Biomarkers Prev 8:675-82. 1999
  9. pmc Detecting low penetrance genes in cancer: the way ahead
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK
    J Med Genet 37:161-7. 2000
  10. ncbi request reprint Genetic predisposition to ocular melanoma
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Eye (Lond) 13:43-6. 1999

Detail Information

Publications90

  1. ncbi request reprint A method for determining familial cancer risks in clinical practice
    R S Houlston
    Section of Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK
    Dis Markers 13:49-55. 1996
    ..A method of estimating familial cancer risks based on segregation models and linkage data is presented and its implementation discussed...
  2. doi request reprint [Identification of low-penetrance alleles associated with colon cancer risk]
    Richard Houlston
    ICR, Royaume Uni, Section of Cancer, Genetics Institute of Cancer Research, 15 Cotswold Road Belmont, Sutton SM2 5NG
    Med Sci (Paris) 25:39-41. 2009
    ..The risks conferred by the susceptibility alleles are low. The combined effects may, however, be sufficiently large to be useful for risk prediction, and targeted screening and prevention, particularly as more loci are identified...
  3. 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...
  4. ncbi request reprint Polymorphisms and colorectal tumor risk
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Gastroenterology 121:282-301. 2001
    ..To assess the evidence that any of these confers a risk, a systematic review and meta-analysis of published studies was undertaken...
  5. pmc What we could do now: molecular pathology of colorectal cancer
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Mol Pathol 54:206-14. 2001
    ....
  6. ncbi request reprint Glutathione S-transferase mu1 (GSTM1) status and bladder cancer risk: a meta-analysis
    L E Johns
    Section of Cancer Genetics, Institute of Cancer Research, Sutton SM2 5NG, UK
    Mutagenesis 15:399-404. 2000
    ....
  7. ncbi request reprint CYP1A1 polymorphisms and lung cancer risk: a meta-analysis
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    Pharmacogenetics 10:105-14. 2000
    ..Additional well-designed studies based on sample sizes commensurate with the detection of small genotypic risks may allow a more definitive conclusion...
  8. ncbi request reprint Glutathione S-transferase M1 status and lung cancer risk: a meta-analysis
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Cancer Epidemiol Biomarkers Prev 8:675-82. 1999
    ..A major concern in case-control studies of polymorphisms and cancer risk is bias. A review of the 23 case-control studies indicates that greater attention should, therefore, be paid to the design of future studies...
  9. pmc Detecting low penetrance genes in cancer: the way ahead
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK
    J Med Genet 37:161-7. 2000
    ..Here, we review the strategies available for identifying cancer predisposition genes of low and moderate penetrance...
  10. ncbi request reprint Genetic predisposition to ocular melanoma
    R S Houlston
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Eye (Lond) 13:43-6. 1999
    ..At present the identification of such individuals is restricted to the small number belonging to BRCA2 families and those with the atypical mole syndrome...
  11. ncbi request reprint Linkage analysis of candidate regions for coeliac disease genes
    R S Houlston
    Institute of Cancer Research, Sutton, Surrey, UK
    Hum Mol Genet 6:1335-9. 1997
    ....
  12. doi request reprint CASP8 D302H and meningioma risk: an analysis of five case-control series
    Lara Bethke
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Cancer Lett 273:312-5. 2009
    ..Carrier status for 302H was not associated with a statistically significantly increased risk (OR=1.16; 95% CI: 0.87-1.53; P=0.31) making it unlikely that this variant contributes to the inherited risk of meningioma...
  13. doi request reprint Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma
    Lara Bethke
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:1195-202. 2008
    ..94). Our findings provide support for the role of folate metabolism in the development of primary brain tumors. In particular, genotypes associated with increased 5,10-methylenetetrahydrofolate levels are associated with elevated risk...
  14. doi request reprint Comprehensive analysis of DNA repair gene variants and risk of meningioma
    Lara Bethke
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Rd, Sutton, Surrey SM2 5NG, UK
    J Natl Cancer Inst 100:270-6. 2008
    ..A relationship between risk of meningioma and exposure to ionizing radiation is also well known and led us to examine whether variants in DNA repair genes contribute to disease susceptibility...
  15. doi request reprint Association of genetic variants at 8q24 with breast cancer risk
    Olivia Fletcher
    Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:702-5. 2008
    ..25-fold increased risk of prostate cancer, with no effect for the two other variants, indicates that the effects of the risk alleles clustered at 8q24 are cancer site specific...
  16. doi request reprint The common D302H variant of CASP8 is associated with risk of glioma
    Lara Bethke
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Cancer Epidemiol Biomarkers Prev 17:987-9. 2008
    ..10-1.70; P = 0.004). The association of CASP8 D302H with glioma risk indicates the importance of inherited variation in the apoptosis pathway in susceptibility to this form of primary brain tumor...
  17. 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...
  18. doi request reprint Lack of a relationship between the common 18q24 variant rs12953717 and risk of chronic lymphocytic leukemia
    Peter Broderick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Leuk Lymphoma 49:271-2. 2008
    ..99 (95% CI: 0.85 - 1.16) and 0.91 (95% CI: 0.74 - 1.11) for heterozygotes and TT homozygotes, respectively. These data suggests variation at SMAD7 does not significantly contribute to an inherited susceptibility to CLL...
  19. doi request reprint IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma
    Peter Broderick
    Section of Cancer Genetics, Institute of Cancer Research, Royal Marsden Hospitals NHS Trust, London, UK
    Br J Haematol 148:413-5. 2010
    ..21 (95% confidence interval: 1.05-1.39, P = 0.009) and highlights the importance of inherited variation in B-cell developmental genes in the development of HL...
  20. 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
    ....
  21. pmc Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
    Elise Ruark
    Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton SM2 5NG, UK
    Nature 493:406-10. 2013
    ..More generally, these data provide new insights into the role of rare and of mosaic genetic variants in common conditions, and the use of sequencing in their identification...
  22. ncbi request reprint Relationship between glutathione S-transferase M1, T1, and P1 polymorphisms and chronic lymphocytic leukemia
    Martin Yuille
    Academic Department of Haematology and Cytogenetics, and the Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Blood 99:4216-8. 2002
    ..8-fold (OR = 2.8, 95% confidence interval: 1.1-6.9). Our findings suggest that heritable GST status may influence the risk of developing CLL...
  23. ncbi request reprint Comprehensive analysis of the role of DNA repair gene polymorphisms on risk of glioma
    Lara Bethke
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Rd, Sutton, Surrey SM2 5NG, UK
    Hum Mol Genet 17:800-5. 2008
    ..01). Our results provide additional support for the hypothesis that low penetrance variants contribute to the risk of developing glioma and suggest that a genetic variant located in or around the CHAF1A gene contributes to disease risk...
  24. doi request reprint Germline mutations in RAD51, RAD51AP1, RAD51B, RAD51C,RAD51D, RAD52 and RAD54L do not contribute to familial chronic lymphocytic leukemia
    Gabrielle Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Leuk Lymphoma 49:130-3. 2008
    ..No overt pathogenic mutations were identified. These findings indicate that germline mutations in RAD51, RAD51AP1, RAD51L1, RAD51L3, RAD52 and RAD54L are unlikely to be causal of an inherited predisposition to CLL...
  25. ncbi request reprint Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility
    Nichola Johnson
    The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK
    Hum Mol Genet 16:1051-7. 2007
    ..A risk score incorporating a suitably weighted sum of all potentially functional variants in these and a few other candidate genes may provide clinically useful identification of women at high genetic risk...
  26. ncbi request reprint Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases
    Nicholas Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom
    Genes Chromosomes Cancer 41:163-9. 2004
    ..No pathogenic mutations in the candidate genes were identified. This report provides further evidence of the existence of a second PJS disease locus at 19q13.4 and excludes involvement of eight candidate genes...
  27. ncbi request reprint Variation in the manganese superoxide dismutase gene (SOD2) is not a major cause of radiotherapy complications in breast cancer patients
    Helen Green
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
    Radiother Oncol 63:213-6. 2002
    ..MnSOD has been linked to expression of malignant phenotype and apoptosis and polymorphic variation in the gene, SOD2 to risk of breast cancer...
  28. pmc Genome-wide association study identifies five new breast cancer susceptibility loci
    Clare Turnbull
    Section of Cancer Genetics, The Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:504-7. 2010
    ....
  29. doi request reprint DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
    Ingrid Slade
    Section of Cancer Genetics, Institute of Cancer Research and Royal Marsden Hospital, 15 Cotswold Road, Sutton SM2 5NG, UK
    J Med Genet 48:273-8. 2011
    ..Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB)...
  30. pmc Activating mutations and/or expression levels of tyrosine kinase receptors GRB7, RAS, and BRAF in testicular germ cell tumors
    Alan McIntyre
    Molecular Cytogenetics, Section of Molecular Carcinogenesis, The Institute of Cancer Research, Sutton, Surrey, UK
    Neoplasia 7:1047-52. 2005
    ..Mutation, elevated expression, and correlations between expression levels of KRAS2, GRB7, and KIT are consistent with their involvement in the development of TGCTs...
  31. ncbi request reprint Re: MLH1 93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer
    Richard A Hubner
    J Natl Cancer Inst 99:1490; author reply 1490-1. 2007
  32. ncbi request reprint Lack of an association between the TGFBR1*6A variant and colorectal cancer risk
    Johanna Skoglund
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Clin Cancer Res 13:3748-52. 2007
    ..To further evaluate the relationship between TGFBR1*6A and colorectal cancer risk, we have conducted a large case-control study and a meta-analysis of previously published studies...
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. ncbi request reprint CHEK2*1100delC and risk of chronic lymphocytic leukemia
    Gabrielle S Sellick
    Leuk Lymphoma 47:2659-60. 2006
  40. 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
    ....
  41. 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...
  42. 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...
  43. 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...
  44. ncbi request reprint Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
    Timothy R Porter
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    Oncogene 21:1928-33. 2002
    ....
  45. pmc Unregulated smooth-muscle myosin in human intestinal neoplasia
    Pia Alhopuro
    Department of Medical Genetics and Division of Pathology, HUSLAB and Haartman Institute, Helsinki University Central Hospital and Genome Scale Biology Program, Biomedicum Helsinki, University of Helsinki, 00014, Helsinki, Finland
    Proc Natl Acad Sci U S A 105:5513-8. 2008
    ..These data challenge our view on MYH11 as a passive differentiation marker functioning in muscle contraction and add to our understanding of intestinal neoplasia...
  46. doi request reprint A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
    Ian P M Tomlinson
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK
    Nat Genet 40:623-30. 2008
    ..3 (P = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. These data provide further evidence for the 'common-disease common-variant' model of CRC predisposition...
  47. pmc Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
    Albert Tenesa
    Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh and MRC Human Genetics Unit, Edinburgh EH4 2XU, UK
    Nat Genet 40:631-7. 2008
    ..008) and rs4939827 (P < 0.009). Carrying all six possible risk alleles yielded OR = 2.6 (95% CI = 1.75-3.89) for CRC. These findings extend our understanding of the role of common genetic variation in CRC etiology...
  48. pmc Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
    Christopher I Amos
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    Nat Genet 40:616-22. 2008
    ..Haplotype analysis was consistent with there being a single risk variant in this region. We conclude that variation in a region of 15q25.1 containing nicotinic acetylcholine receptors genes contributes to lung cancer risk...
  49. 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))...
  50. pmc Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer
    Pengyuan Liu
    Washington University, St Louis, MO 63110, USA
    J Natl Cancer Inst 100:1326-30. 2008
    ..67, CI = 2.21 to 14.60, both of which were located in the 15q24-25.1 locus, than among control subjects. Thus, further research to elucidate causal variants in the 15q24-25.1 locus that are associated with lung cancer is warranted...
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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)...
  58. 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)...
  59. 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...
  60. 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...
  61. ncbi request reprint Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene
    Athena Matakidou
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Carcinogenesis 25:369-73. 2004
    ..2-3.3), respectively. Although the risk of NMTC associated with the TgQ2511R R-allele is modest, its high prevalence in the general population suggests it may make a significant contribution to the incidence of NMTC...
  62. ncbi request reprint Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma
    Nada Al-Tassan
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
    Hum Genet 114:207-10. 2004
    ....
  63. ncbi request reprint Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma
    Lara Lipton
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
    Cancer Lett 200:149-52. 2003
    ..The CHEK2 1100delC allele was not over-represented in cases suggesting that this variant is not associated with an increased risk of colorectal disease...
  64. 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...
  65. 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...
  66. 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...
  67. 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
    ....
  68. ncbi request reprint Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome
    Nayanta Sodha
    Hum Mutat 20:460-2. 2002
  69. 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...
  70. ncbi request reprint Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
    Ian P M Tomlinson
    Molecular and Population Genetics Laboratory, Imperial Cancer Research Fund, 44, Lincoln s Inn Fields, London WC2A 3PX, UK
    Nat Genet 30:406-10. 2002
    ..Our results provide clues to the pathogenesis of fibroids and emphasize the importance of mutations of housekeeping and mitochondrial proteins in the pathogenesis of common types of tumor...
  71. 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...
  72. ncbi request reprint Medullary and non-medullary thyroid cancer in a family
    Audrey Ardern-Jones
    Acta Oncol 43:680-1. 2004
  73. 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...
  74. ncbi request reprint Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan
    Zoe Kemp
    Molecular and Population Genetics Laboratory, Cancer Research UK, London, UK
    Hum Mol Genet 15:2903-10. 2006
    ..038) with 62% of families linked to the locus. We provide evidence for a novel CRC susceptibility gene. Further studies are needed to confirm this localization and to evaluate the contribution of this locus to disease incidence...
  75. 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...
  76. 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...
  77. 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...
  78. 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...
  79. 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...
  80. ncbi request reprint Molecular advances in medullary thyroid cancer diagnostics
    Richard A Hubner
    Institute of Cancer Research, Cancer Genetics, 15 Cotswold Road, Sutton, SM2 5NG, United Kingdom
    Clin Chim Acta 370:2-8. 2006
    ..Mutation analysis of RET in individuals with MEN2 has identified a number of different mutations, and correlation with cancer biology and clinical outcome has led to tailoring of management according to the mutation detected...
  81. 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...
  82. ncbi request reprint A systematic review and meta-analysis of the relationship between chromosome 18q genotype, DCC status and colorectal cancer prognosis
    Sanjay Popat
    Department of Medicine, Royal Marsden Hospital, London SW3 6JJ, United Kingdom
    Eur J Cancer 41:2060-70. 2005
    ..Cancers with chromosome 18q loss appear to have a poorer prognosis. Prospective studies using consistent methodology are needed to precisely quantify its effect and role in patients with stage II-III disease...
  83. 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...
  84. ncbi request reprint No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas
    Karen T Barker
    Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK
    Cancer Lett 235:136-40. 2006
    ..To explore this possibility we have developed a highly specific antibody to FH and analysed a series of forty-five fresh-frozen uterine leiomyomas and nine leiomyosarcomas for FH expression...
  85. ncbi request reprint Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer
    James P Robinson
    Cancer Research UK Colorectal Cancer Unit, St Mark s Hospital, Harrow, HA1 3UJ, United Kingdom
    Cancer Epidemiol Biomarkers Prev 14:1460-3. 2005
    ..TFR gene polymorphism was not an independent risk factor and did not modify the disease risk associated with HFE mutation...
  86. 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...
  87. 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...
  88. 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...
  89. 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...
  90. 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...