Publications by authors named "R Houlston"
The location of a patient's colorectal cancer (CRC) influences their outcome but inherited factors may also be involved. We studied 1899 patients with advanced CRC (514 had proximal colonic, 493 distal colonic and 892 rectal tumours) and carried out genome-wide association studies for survival. Single nucleotide polymorphisms (SNPs) suggestive of association (P < 1.
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- Common genetic variation at the 11q23.1 locus is linked to colorectal cancer risk, complicating the understanding of its mechanisms due to complex gene interactions and expression patterns.
- The study utilizes various sequencing methods and mouse models to identify key genes, especially highlighting rs3087967 as a crucial variant that influences the expression of 21 genes associated with tuft cell markers.
- The findings suggest that the risk genotype at rs3087967 leads to a deficiency in tuft cells, which are important for tumor suppression, positioning these cells as protective elements in colorectal cancer development.
Extrachromosomal DNA (ecDNA) is a major contributor to treatment resistance and poor outcome for patients with cancer. Here we examine the diversity of ecDNA elements across cancer, revealing the associated tissue, genetic and mutational contexts. By analysing data from 14,778 patients with 39 tumour types from the 100,000 Genomes Project, we demonstrate that 17.
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- Testicular germ cell tumours (TGCT) are the most common cancers found in young men, including seminoma and non-seminoma types.
- This study uses whole genome sequencing to analyze adult TGCTs, providing a detailed genomic profile that includes mutations, structural variations, and DNA amplifications.
- The research uncovers correlations between genetic changes and the different growth patterns of TGCT subtypes, highlighting late genomic duplication in some cases and a common immune disruption mechanism in seminomas.