Luis G Carvajal-Carmona

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint Challenges in the identification and use of rare disease-associated predisposition variants
    Luis G Carvajal-Carmona
    Molecular and Population Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Curr Opin Genet Dev 20:277-81. 2010
  2. pmc A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
    Ceres Fernández-Rozadilla
    Galician Public Fundation of Genomic Medicine FPGMX Grupo de Medicina Xenómica Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERer IDIS, Santiago de Compostela, 15706, Spain
    BMC Genomics 14:55. 2013
  3. pmc Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins
    Anna Abuli
    Department of Gastroenterology, IDIBAPS, Hospital Clinic, CIBERehd, University of Barcelona, Barcelona, Catalonia, Spain
    BMC Cancer 11:339. 2011
  4. doi request reprint Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Hum Mol Genet 18:1889-92. 2009
  5. pmc Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition
    Luis G Carvajal-Carmona
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Proc Natl Acad Sci U S A 107:7858-62. 2010
  6. doi request reprint Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles
    Luis G Carvajal-Carmona
    Molecular and Population Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Curr Opin Genet Dev 20:308-14. 2010
  7. pmc Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics and Department of Clinical Pharmacology, University of Oxford, Oxford, UK
    Hum Mol Genet 20:2879-88. 2011
  8. pmc Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    Claire Palles
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 45:136-44. 2013
  9. pmc Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
    Sarah L Spain
    Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7BN, UK
    Hum Mol Genet 21:934-46. 2012
  10. pmc Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer
    Ian P M Tomlinson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 7:e1002105. 2011

Collaborators

Detail Information

Publications14

  1. ncbi request reprint Challenges in the identification and use of rare disease-associated predisposition variants
    Luis G Carvajal-Carmona
    Molecular and Population Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Curr Opin Genet Dev 20:277-81. 2010
    ..Both strategies must continue to be pursued in parallel and their advantages and pitfalls must be considered without excessive scepticism or expectation...
  2. pmc A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
    Ceres Fernández-Rozadilla
    Galician Public Fundation of Genomic Medicine FPGMX Grupo de Medicina Xenómica Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERer IDIS, Santiago de Compostela, 15706, Spain
    BMC Genomics 14:55. 2013
    ..Nevertheless, these have only been able to explain part of the missing heritability. Moreover, these signals have only been inspected in populations of Northern European origin...
  3. pmc Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins
    Anna Abuli
    Department of Gastroenterology, IDIBAPS, Hospital Clinic, CIBERehd, University of Barcelona, Barcelona, Catalonia, Spain
    BMC Cancer 11:339. 2011
    ....
  4. doi request reprint Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UK
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Hum Mol Genet 18:1889-92. 2009
    ..We, therefore, failed to replicate an association between common variants at ADIPOQ and CRC risk in the UK, and suggest that the previous report is either population-specific or a false-positive result...
  5. pmc Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition
    Luis G Carvajal-Carmona
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
    Proc Natl Acad Sci U S A 107:7858-62. 2010
    ..We conclude that neither genetic variation nor ASE at TGFBR1 is likely to be a major CRC risk factor...
  6. doi request reprint Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility alleles
    Luis G Carvajal-Carmona
    Molecular and Population Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Curr Opin Genet Dev 20:308-14. 2010
    ..Unlike hypothesis-free and disease-based GWA-discovered alleles, intermediate phenotype alleles that mediate cancer risk will have a strong biological relevance and will represent excellent modifiable or 'drugable' therapeutic targets...
  7. pmc Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics and Department of Clinical Pharmacology, University of Oxford, Oxford, UK
    Hum Mol Genet 20:2879-88. 2011
    ..In addition, caution should be exercised when assigning functionality to candidate genes in regions discovered through GWA analysis...
  8. pmc Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    Claire Palles
    Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 45:136-44. 2013
    ..Further analysis of published data showed that the recently described group of hypermutant, microsatellite-stable CRCs is likely to be caused by somatic POLE mutations affecting the exonuclease domain...
  9. pmc Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13
    Sarah L Spain
    Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7BN, UK
    Hum Mol Genet 21:934-46. 2012
    ..Post-GWAS fine-mapping studies are challenging, but the use of multiple tools can assist in identifying candidate functional variants in at least some cases...
  10. pmc Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer
    Ian P M Tomlinson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 7:e1002105. 2011
    ....
  11. pmc Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas
    Luis G Carvajal-Carmona
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Gastroenterology 144:53-5. 2013
    ..Genetic susceptibility to CRC in the general population is likely to be mediated in part by predisposition to adenomas...
  12. pmc Thyroid cancer susceptibility polymorphisms: confirmation of loci on chromosomes 9q22 and 14q13, validation of a recessive 8q24 locus and failure to replicate a locus on 5q24
    Angela M Jones
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    J Med Genet 49:158-63. 2012
    ..The four validated TC SNPs accounted for a relatively large proportion (∼11%) of the sibling relative risk of TC, principally owing to the large effect size of rs965513 (OR 1.74)...
  13. ncbi request reprint Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom
    Zoe E Kemp
    Molecular and Population Genetics Laboratory, Cancer Research UK, London, United Kingdom
    Cancer Res 66:5003-6. 2006
    ..The results presented here further support the existence of a colorectal cancer susceptibility gene on chromosome 9q and refine its likely location...
  14. ncbi request reprint Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer
    Olivia Will
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research, London, UK
    Gastroenterology 132:527-30. 2007
    ..He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis...