12 Result(s)
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Article
Correction: Corrigendum: Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue
Nat. Genet. 47, 367–372 (2015); published online 2 March 2015; corrected after print 5 May 2015 In the version of this article initially published, author Manasa Ramakrishna was omitted from the author list. T...
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Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue
Colin Cooper and colleagues report genome-wide sequences of multiple samples of multifocal cancer and morphologically normal tissue from the prostates of three men. They found high levels of mutations in morph...
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RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia
Peter Campbell, Mel Greaves and colleagues use exome and whole-genome sequencing to characterize somatic mutations in childhood acute lymphoblastic leukemias with the ETV6-RUNX1 fusion gene. They find that RAG-me...
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Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma
Andrew Futreal and colleagues identify the major cartilage collagen gene COL2A1 as a frequent target of somatic mutation in chondrosarcoma. The mutation patterns are consistent with selection for variants likely ...
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Article
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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Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
Andrew Futreal and colleagues report inactivating somatic mutations in the histone lysine demethylase gene UTX in human cancers, including multiple myelomas, esophageal squamous carcinomas, renal clear cell carci...
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey et al. carry out a large-scale systematic sequencing of the majority of X-chromosome coding exons from 208 families with multiple individuals with mental retardation and a pattern of transmission compatibl...
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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disorders arising from mutations on the X chromosome are typicall...
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
Human cancers often carry many somatically acquired genomic rearrangements, some of which may be implicated in cancer development. However, conventional strategies for characterizing rearrangements are laborio...
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Article
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Nonsense-mediated mRNA decay (NMD) is of universal biological significance1,2,3. It has emerged as an important global RNA, DNA and translation regulatory pathway4. By systematically sequencing 737 genes (annotat...
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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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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...
