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Article
Open AccessBenefits for children with suspected cancer from routine whole-genome sequencing
Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every ...
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Article
Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm
Spindle cell tumours in the sinonasal area are diagnostically challenging. We identified a neoplasm that defied histopathological classification using current criteria.
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Article
Open AccessThe NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all children with cancer. This approach was piloted during the 1...
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Article
Open AccessAn integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures
Anaplastic meningioma is a rare and aggressive brain tumor characterised by intractable recurrences and dismal outcomes. Here, we present an integrated analysis of the whole genome, transcriptome and methylati...
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Article
Open AccessGenomic patterns of progression in smoldering multiple myeloma
We analyzed whole genomes of unique paired samples from smoldering multiple myeloma (SMM) patients progressing to multiple myeloma (MM). We report that the genomic landscape, including mutational profile and s...
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Article
Open AccessWorkshop report on the 2nd Joint ENCCA/EuroSARC European bone sarcoma network meeting: integration of clinical trials with tumour biology
This is the report of the 2nd Joint ENCCA/EuroSARC European Bone Sarcoma Network Meeting held in Leiden, The Netherlands, on 26-27 September 2013, bringing together preclinical and clinical investigators on bone ...
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Article
Open AccessThe genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models
Melanoma is the most deadly form of skin cancer. Expression of oncogenic BRAF or NRAS, which are frequently mutated in human melanomas, promote the formation of nevi but are not sufficient for tumorigenesis. Even...
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Article
Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer
The genetic component of breast cancer predisposition remains largely unexplained. Candidate gene case–control resequencing has identified predisposition genes characterised by rare, protein truncating mutatio...
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Correction: Corrigendum: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
Nature 469, 539–542 (2011) In this Letter, the accession number for the gene expression data in the Gene Expression Omnibus was wrongly published as GEO22316. The correct accession number is GSE22316. We thank...
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Correction: Corrigendum: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Nat. Genet. 38, 1242–1244 (2006); published online 1 October 2006; corrected after print 6 June 2011 In the version of this article initially published, the author Andrew Bastawrous was omitted from the author...
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Article
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
Using large-scale exome sequencing, Andrew Futreal and colleagues have identified a second frequently mutated gene (after VHL) in clear cell renal cell carcinomas, the most frequent type of kidney cancer. PBRM1, ...
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Article
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenita...
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Article
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer
We examined the coding sequence of 518 protein kinases, ∼1.3 Mb of DNA per sample, in 25 breast cancers. In many tumors, we detected no somatic mutations. But a few had numerous somatic mutations with distinct...
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Comparative Sequence Analysis
Automated fluorescent sequencing of polymerase chain reaction (PCR) products is now widely used in molecular diagnostics. It is most commonly used to characterize mutations detected in an initial screen using ...
