Publications by authors named "L Bowdler"

Germline genetic variants have been identified, which predispose individuals and families to develop melanoma. Tumor thickness is the strongest predictor of outcome for clinically localized primary melanoma patients. We sought to determine whether there is a heritable genetic contribution to variation in tumor thickness.

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Article Synopsis
  • - A large meta-analysis involving genome-wide association studies (GWAS) of nearly 37,000 melanoma cases revealed 54 significant genetic locations (loci) linked to the disease, advancing our understanding of its genetic risk factors.
  • - The study found that the acral melanoma subtype is not influenced by pigmentation, suggesting distinct genetic mechanisms compared to other melanoma types.
  • - By combining findings from various genetic studies, researchers identified a total of 85 loci related to cutaneous melanoma, highlighting factors such as nevus count, pigmentation, and telomere maintenance as important in melanoma development.
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Background & Aims: Colorectal cancer is an epigenetically heterogeneous disease, however, the extent and spectrum of the CpG island methylator phenotype (CIMP) is not clear.

Methods: Genome-scale methylation and transcript expression were measured by DNA Methylation and RNA expression microarray in 216 unselected colorectal cancers, and findings were validated using The Cancer Genome Atlas 450K and RNA sequencing data. Mutations in epigenetic regulators were assessed using CIMP-subtyped Cancer Genome Atlas exomes.

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The original version of this Article contained errors in the spelling of the authors Fan Liu and M. Arfan Ikram, which were incorrectly given as Fan Lui and Arfan M. Ikram.

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DNA methylation plays an important role in the regulation of transcription. Genetic control of DNA methylation is a potential candidate for explaining the many identified SNP associations with disease that are not found in coding regions. We replicated 52,916 cis and 2,025 trans DNA methylation quantitative trait loci (mQTL) using methylation from whole blood measured on Illumina HumanMethylation450 arrays in the Brisbane Systems Genetics Study (n = 614 from 177 families) and the Lothian Birth Cohorts of 1921 and 1936 (combined n = 1366).

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