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Article
Open AccessPharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells
Rhabdomyosarcomas (RMS) are predominantly paediatric sarcomas thought to originate from muscle precursor cells due to impaired myogenic differentiation. Despite intensive treatment, 5-year survival for patient...
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Article
Open AccessRisk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines
Identifying healthy carriers of germline pathogenic variants in high penetrance cancer susceptibility genes offers the potential for risk-reducing surgery. The NHS England National Genomic Test Directory offer...
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Article
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknow...
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Article
Open AccessGermline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women
To identify genetic variants associated with breast cancer prognosis we conduct a meta-analysis of overall survival (OS) and disease-free survival (DFS) in 6042 patients from four cohorts. In young women, brea...
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Article
Open AccessIdentification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated...
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Article
Open AccessWhole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations
An understanding of linkage disequilibrium (LD) structures in the human genome underpins much of medical genetics and provides a basis for disease gene map** and investigating biological mechanisms such as r...
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Article
Open AccessGenetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms
Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide a...
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Article
Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes
Rearrangements of chromosome band 9p24 are known to be associated with JAK2 fusion genes, e.g., t(8;9)(p22;p24) with a PCM1-JAK2 and t(9;22)(p24;q11) with a BCR-JAK2 fusion gene, respectively. In association with...
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Article
Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease
Exome sequencing identifies thousands of DNA variants and a proportion of these are involved in disease. Genotypes derived from exome sequences provide particularly high-resolution coverage enabling study of t...
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Article
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population
Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BR...
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Article
Genome-wide association study identifies five new breast cancer susceptibility loci
Douglas Easton and colleagues report a genome-wide association study for breast cancer, identifying five new susceptibility loci.
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Chapter
The Influence of Common Polymorphisms on Breast Cancer
Breast cancer is one of the most frequently diagnosed cancers in the Western world and a significant cause of mortality worldwide. A small proportion of cases are accounted for by high-penetrance monogenic pre...
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Article
Open AccessThe influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer
Common variants that alter breast cancer risk are being discovered. Here, we determine how these variants influence breast cancer prognosis, risk and tumour characteristics.
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Article
Open AccessGenetic Analysis Workshop 15: gene expression analysis and approaches to detecting multiple functional loci
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Article
Open AccessMap** a gene for rheumatoid arthritis on chromosome 18q21
Although single chi-square analysis of the North American Rheumatoid Arthritis Consortium (NARAC) data identifies many single-nucleotide polymorphisms (SNPs) with p-values less than 0.05, none remain significant ...
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Protocol
Linkage Disequilibrium Maps and Location Databases
Effective application of association map** for complex traits requires characterization of linkage disequilibrium (LD) patterns that reflect the dominant process of recombination and its duration in addition...
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Article
Cosmopolitan linkage disequilibrium maps
Linkage maps have been invaluable for the positional cloning of many genes involved in severe human diseases. Standard genetic linkage maps have been constructed for this purpose from the Centre d'Etude du Pol...
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Article
Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease
Matrix metalloproteinase-9 (MMP-9) plays an important role in the pathogenesis of atherosclerosis, the pathology underlying the majority of coronary artery disease. We previously identified several polymorphis...
