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The 8p11 myeloproliferative syndrome is a rare, aggressive condition associated with reciprocal translocations of chromosome band 8p11, most commonly the t(8;13)(p11;q12). To identify the genes involved in this translocation, we used fluorescence in situ hybridization (FISH) analysis to show that the chromosome 8 breakpoints fell within YAC 899e2 and that… (More)
We found that C282Y homozygosity was not under-represented in an elderly male population. This suggests that life-threatening, haemochromatosis-related disease may not occur in many C282Y homozygotes.
There is a great deal of interest in a fine-scale population structure in the UK, both as a signature of historical immigration events and because of the effect population structure may have on disease association studies. Although population structure appears to have a minor impact on the current generation of genome-wide association studies, it is likely… (More)
BACKGROUND Although most patients with hereditary haemochromatosis have HFE C282Y mutations, the lifetime risk to HFE C282Y homozygotes of developing fatal diseases such as hepatocellular carcinoma is uncertain. We have carried out a cross-sectional study to determine the proportion of diagnosed hepatocellular carcinoma patients who are homozygous for the… (More)
OBJECTIVES To determine the value of screening patients with inflammatory arthritis for haemochromatosis-associated mutations in the HFE gene. METHODS We screened 1000 patients with inflammatory arthritis and 1000 controls for the HFE gene mutations that are associated with haemochromatosis. The arthritis patients were diagnosed between 1989 and 1995 and… (More)
BACKGROUND Some studies have suggested that breast cancer in black women is more aggressive than in white women. This study's aim was to look for evidence of differences in tumour biology between the two cohorts. METHODS This study compared the stage, grade and pathological expression of five immunohistochemical markers (oestrogen receptor [ER],… (More)
The potential clinical utility of genetic markers associated with response to fluoropyrimidine treatment in colorectal cancer patients remains controversial despite extensive study. Our aim was to test the clinical validity of both novel and previously identified markers of adverse events in a broad clinical setting. We have conducted an observational… (More)
BACKGROUND Genetic variation in folate metabolism has been associated with survival in utero, the success of in vitro fertilisation, multiple pathologies and longevity. METHODS We have looked at the prevalence of genetic variants of the enzymes MTHFR and TYMS in 2,898 DNA samples derived from five cohorts collected in the United Kingdom. The simultaneous… (More)
[This corrects the article DOI: 10.1371/journal.pone.0078053.].