Genomes and Genes
Affiliation: University of Newcastle
- Lynch syndrome: history, causes, diagnosis, treatment and prevention (CAPP2 trial)John Burn
Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
Dig Dis 30:39-47. 2012..CaPP3 will test different doses of aspirin in at least 3,000 gene carriers to determine whether low-dose aspirin is as effective...
- Genetics, inheritance and strategies for prevention in populations at high risk of colorectal cancer (CRC)John Burn
Institute of Genetic Medicine, Centre for Life Central Parkway, Newcastle upon Tyne, UK
Recent Results Cancer Res 191:157-83. 2013..The evidence is now sufficient to recommend aspirin to all Lynch syndrome gene carriers. CAPP3 will recruit 3000 gene carriers into a dose inferiority study to test the relative benefits of 100mg, 300 or 600mg daily doses...
- NeuroferritinopathyJohn Burn
Institute of Human Genetics, Newcastle University, Newcastle on Tyne, UK
Semin Pediatr Neurol 13:176-81. 2006....
- Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trialJohn C Mathers
Human Nutrition Research Centre, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
Lancet Oncol 13:1242-9. 2012..We assessed the effect of resistant starch on the incidence of colorectal cancer...
- Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trialJohn Burn
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
Lancet 378:2081-7. 2011....
- MLH1 Differential allelic expression in mutation carriers and controlsMauro Santibanez Koref
Institute of Human Genetics, University of Newcastle, Newcastle upon Tyne, UK
Ann Hum Genet 74:479-88. 2010..655G>A; p.I219V) and rs1800734 (c.-93 G>A) that are independently associated with expression. These influences are, however, small compared to the differences associated with pathological variants...
- A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposisJohn Burn
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
Cancer Prev Res (Phila) 4:655-65. 2011..This clinical trial is the largest ever conducted in the setting of FAP and found a trend of reduced polyp load (number and size) with 600 mg of aspirin daily. RS had no clinical effect on adenomas...
- Neuroferritinopathy: a new inborn error of iron metabolismMichael J Keogh
Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
Neurogenetics 13:93-6. 2012..All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA...
- Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutationPatrick F Chinnery
Institute of Human Genetics, University of Newcastle upon Tyne, UK
Brain 130:110-9. 2007..Depressed serum ferritin is common and provides a useful screening test in routine practice, and gradient echo brain MRI will identify all symptomatic cases...
- Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expressionNeil Rajan
Institute of Human Genetics, University of Newcastle upon Tyne, NE1 3BZ, UK
J Pathol 224:309-21. 2011..Using these data, we propose a model where epigenetic programming may influence tumour patterning in patients with CYLD mutations...
- Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox-independent mechanismGillian M Borthwick
Institute of Human Genetics, International Centre for Life, University of Newcastle, NE1 3BZ, UK
FASEB J 20:2009-16. 2006..We conclude that aspirin, at therapeutic concentrations, directly inhibits angiogenesis via a Cox-independent mechanism, which may significantly contribute to its neoplastic protective effects...
- Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndromeJohn Burn
Institute of Human Genetics, Newcastle University, International Centre for Life, Central Pkwy, Newcastle upon Tyne NE1 3BZ, United Kingdom
N Engl J Med 359:2567-78. 2008..Resistant starch has been associated with an antineoplastic effect on the colon...
- Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patientsDimitri Hautot
Institute of Science and Technology in Medicine, Keele University, Stoke on Trent, and Institute for Aging and Health, Newcastle General Hospital, Newcastle upon Tyne, UK
Biochim Biophys Acta 1772:21-5. 2007..The mutated ferritin protein appears to be responsible for the presence of iron oxide nano-particules, which in turn could be responsible for extensive damage in the brain...
- Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormalityEvelyn Torsney
Institute of Human Genetics, International Centre for Life, University of Newcastle upon Tyne, NE1 3BZ, UK
Circulation 107:1653-7. 2003..The reasons for the variable phenotype in hereditary hemorrhagic telangiectasia are not understood...
- Neuroferritinopathy: a window on the role of iron in neurodegenerationDouglas E Crompton
Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne NE1 3BZ, United Kingdom
Blood Cells Mol Dis 29:522-31. 2002..This rare disease provides evidence of a central role for iron metabolism in neurodegenerative disorders...
- Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL ExpressionMichael S Cunnington
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
PLoS Genet 6:e1000899. 2010..Our study suggests that modulation of ANRIL expression mediates susceptibility to several important human diseases...
- Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variantsHelen R Griffin
Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
Heart 96:1651-5. 2010..Tetralogy of Fallot (TOF) is common in individuals with hemizygous deletions of chromosome 22q11.2 that remove the cardiac transcription factor TBX1...
- The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotypeHanne Meijers-Heijboer
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
Am J Hum Genet 72:1308-14. 2003..The unequivocal definition of the HBCC phenotype opens new avenues to search for this putative HBCC-susceptibility gene...
- Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genesAnnick Toutain
Service de Genetique, Hopital Bretonneau, Centre Hospitalo Universitaire, Tours, France
Eur J Hum Genet 10:516-20. 2002....
- Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and humanAmanda Ewart-Toland
UCSF Comprehensive Cancer Center, University of California, San Francisco, California 94115, USA
Nat Genet 34:403-12. 2003..This interaction results in colocalization of UBE2N with STK15 at the centrosomes during mitosis. These results are consistent with an important role for the Ile31 variant of STK15 in human cancer susceptibility...
- RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & ParisiJohn M Opitz
University of Utah, Salt Lake City, Utah
Am J Med Genet A 140:2385. 2006
- Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United KingdomCraig S Wilding
Genetics Department, Westlakes Research Institute, Cumbria, United Kingdom
Birth Defects Res A Clin Mol Teratol 70:483-5. 2004..We investigated the association between this polymorphism and risk of NTD in families affected by NTDs and controls from the northern United Kingdom (UK)...
- MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancerMegan Hitchins
Department of Medical Oncology, St Vincent s Hospital, Sydney, New South Wales, Australia
Gastroenterology 129:1392-9. 2005..In this study, we determined the frequency and role of germline epimutations of MLH1 in HNPCC...
- A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndromeSabine M Klauck
Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
Am J Hum Genet 70:1034-7. 2002..A simple and reliable PCR approach has been developed for detection of the hot spot A140V mutation to prescreen any other unexplained cases of MR before further extensive mutation analyses...