E-viri
Recenzirano
Odprti dostop
-
Behjati, Sam; Tarpey, Patrick S; Haase, Kerstin; Ye, Hongtao; Young, Matthew D; Alexandrov, Ludmil B; Farndon, Sarah J; Collord, Grace; Wedge, David C; Martincorena, Inigo; Cooke, Susanna L; Davies, Helen; Mifsud, William; Lidgren, Mathias; Martin, Sancha; Latimer, Calli; Maddison, Mark; Butler, Adam P; Teague, Jon W; Pillay, Nischalan; Shlien, Adam; McDermott, Ultan; Futreal, P Andrew; Baumhoer, Daniel; Zaikova, Olga; Bjerkehagen, Bodil; Myklebost, Ola; Amary, M Fernanda; Tirabosco, Roberto; Van Loo, Peter; Stratton, Michael R; Flanagan, Adrienne M; Campbell, Peter J
Nature communications, 06/2017, Letnik: 8, Številka: 1Journal Article
Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, we present the largest sequencing study of osteosarcoma to date, comprising 112 childhood and adult tumours encompassing all major histological subtypes. A key finding of our study is the identification of mutations in insulin-like growth factor (IGF) signalling genes in 8/112 (7%) of cases. We validate this observation using fluorescence in situ hybridization (FISH) in an additional 87 osteosarcomas, with IGF1 receptor (IGF1R) amplification observed in 14% of tumours. These findings may inform patient selection in future trials of IGF1R inhibitors in osteosarcoma. Analysing patterns of mutation, we identify distinct rearrangement profiles including a process characterized by chromothripsis and amplification. This process operates recurrently at discrete genomic regions and generates driver mutations. It may represent an age-independent mutational mechanism that contributes to the development of osteosarcoma in children and adults alike.
Avtor
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.