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• W2139598889 abstract "Abstract Phaeochromocytomas ( PCCs ) and paragangliomas ( PGLs ) are rare neural crest‐derived tumours originating from adrenal chromaffin cells or extra‐adrenal sympathetic and parasympathetic tissues. More than a third of PCC / PGL cases are associated with heritable syndromes involving 13 or more known genes. These genes have been broadly partitioned into two groups based on pseudo‐hypoxic and receptor tyrosine kinase ( RTK ) signalling pathways. Many of these genes can also become somatically mutated, although up to one third of sporadic cases have no known genetic driver. Furthermore, little is known of the genes that co‐operate with known driver genes to initiate and drive tumourigenesis. To explore the genomic landscape of PCC / PGL , we applied exome sequencing, high‐density SNP ‐array analysis, and RNA sequencing to 36 PCCs and four functional PGL tumours. All tumours displayed low mutation frequency, in contrast to frequent large segmental copy‐number alterations, aneuploidy, and evidence for chromothripsis in one case. Multi‐region sampling of one benign familial PCC tumour provided evidence for the timing of mutations during tumourigenesis and ongoing clonal evolution. Thirty‐one of 40 (77.5%) cases could be explained by germline or somatic mutations or structural alterations affecting known PCC / PGL genes. Deleterious somatic mutations were also identified in known tumour‐suppressor genes associated with genome maintenance and epigenetic modulation. A multitude of other genes were also found mutated that are likely important for normal neuroendocrine cell function. We revisited the gene‐expression subtyping of PCC / PGL by integrating published microarray data with our RNA ‐seq data, enabling the identification of six robust gene‐expression subtypes. The majority of cases in our cohort with no identifiable driver mutation were classified into a gene‐expression subtype bearing similarity to MAX mutant PCC / PGL . Our data suggest there are yet unknown PCC / PGL cancer genes that can phenocopy MAX mutant PCC / PGL tumours. This study provides new insight into the molecular diversity and genetic origins of PCC / PGL tumours. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd." @default.
• W2139598889 created "2016-06-24" @default.
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• W2139598889 date "2015-02-02" @default.
• W2139598889 modified "2023-10-06" @default.
• W2139598889 title "The genomic landscape of phaeochromocytoma" @default.
• W2139598889 cites W1505909540 @default.
• W2139598889 cites W1546952499 @default.
• W2139598889 cites W1966004360 @default.
• W2139598889 cites W1966702599 @default.
• W2139598889 cites W1966955143 @default.
• W2139598889 cites W1969458729 @default.
• W2139598889 cites W1970307382 @default.
• W2139598889 cites W1978154786 @default.
• W2139598889 cites W1981005501 @default.
• W2139598889 cites W1985850253 @default.
• W2139598889 cites W1986005575 @default.
• W2139598889 cites W1986009297 @default.
• W2139598889 cites W1988497076 @default.
• W2139598889 cites W1991421091 @default.
• W2139598889 cites W1992804184 @default.
• W2139598889 cites W1999626396 @default.
• W2139598889 cites W2005250386 @default.
• W2139598889 cites W2006288875 @default.
• W2139598889 cites W2008255210 @default.
• W2139598889 cites W2009697944 @default.
• W2139598889 cites W2017954660 @default.
• W2139598889 cites W2019077723 @default.
• W2139598889 cites W2025719835 @default.
• W2139598889 cites W2028117213 @default.
• W2139598889 cites W2029623390 @default.
• W2139598889 cites W2037466043 @default.
• W2139598889 cites W2044761914 @default.
• W2139598889 cites W2046661986 @default.
• W2139598889 cites W2049772583 @default.
• W2139598889 cites W2051362964 @default.
• W2139598889 cites W2052953554 @default.
• W2139598889 cites W2057199368 @default.
• W2139598889 cites W2061662711 @default.
• W2139598889 cites W2077547393 @default.
• W2139598889 cites W2081373422 @default.
• W2139598889 cites W2082387803 @default.
• W2139598889 cites W2083273865 @default.
• W2139598889 cites W2089904695 @default.
• W2139598889 cites W2093326954 @default.
• W2139598889 cites W2093711185 @default.
• W2139598889 cites W2094565618 @default.
• W2139598889 cites W2095617425 @default.
• W2139598889 cites W2096706681 @default.
• W2139598889 cites W2097065948 @default.
• W2139598889 cites W2098785387 @default.
• W2139598889 cites W2099377894 @default.
• W2139598889 cites W2099532184 @default.
• W2139598889 cites W2103441770 @default.
• W2139598889 cites W2104852749 @default.
• W2139598889 cites W2112413370 @default.
• W2139598889 cites W2113821617 @default.
• W2139598889 cites W2114031931 @default.
• W2139598889 cites W2114104545 @default.
• W2139598889 cites W2115295135 @default.
• W2139598889 cites W2119169141 @default.
• W2139598889 cites W2119180969 @default.
• W2139598889 cites W2119799188 @default.
• W2139598889 cites W2123824748 @default.
• W2139598889 cites W2125170852 @default.
• W2139598889 cites W2126511952 @default.
• W2139598889 cites W2129259045 @default.
• W2139598889 cites W2134151441 @default.
• W2139598889 cites W2135433369 @default.
• W2139598889 cites W2138539050 @default.
• W2139598889 cites W2138601221 @default.
• W2139598889 cites W2140360759 @default.
• W2139598889 cites W2142033642 @default.
• W2139598889 cites W2142811728 @default.
• W2139598889 cites W2144778448 @default.
• W2139598889 cites W2146712834 @default.
• W2139598889 cites W2150194381 @default.
• W2139598889 cites W2150575159 @default.
• W2139598889 cites W2151794156 @default.
• W2139598889 cites W2152997349 @default.
• W2139598889 cites W2153292182 @default.
• W2139598889 cites W2158343538 @default.
• W2139598889 cites W2161815151 @default.
• W2139598889 cites W2169448152 @default.

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