Research Topics
Genomes and GenesSpecies | Luis G Carvajal-CarmonaSummaryAffiliation: University of Oxford Country: UK Publications
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Detail Information
Publications
Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucinsAnna Abuli
Department of Gastroenterology, IDIBAPS, Hospital Clinic, CIBERehd, University of Barcelona, Barcelona, Catalonia, Spain
BMC Cancer 11:339. 2011....- 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 genesLuis 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... 
Common variation at the adiponectin locus is not associated with colorectal cancer risk in the UKLuis 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...- Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predispositionLuis 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... - Genetic dissection of intermediate phenotypes as a way to discover novel cancer susceptibility allelesLuis 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... 
Challenges in the identification and use of rare disease-associated predisposition variantsLuis 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...- Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomasClaire 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... - Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13Sarah 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... - Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancerIan P M Tomlinson
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
PLoS Genet 7:e1002105. 2011.... - Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomasLuis 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... - 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 5q24Angela 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)... - Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United KingdomZoe 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... - Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancerOlivia 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...