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Titel:

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Article
Autor(en):
Ribi, Sebastian; Baumhoer, Daniel; Lee, Kristy; Edison; Teo, Audrey S M; Madan, Babita; Zhang, Kang; Kohlmann, Wendy K; Yao, Fei; Lee, Wah Heng; Hoi, Qiangze; Cai, Shaojiang; Woo, Xing Yi; Tan, Patrick; Jundt, Gernot; Smida, Jan; Nathrath, Michaela; Sung, Wing-Kin; Schiffman, Joshua D; Virshup, David M; Hillmer, Axel M
Abstract:
Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. Screening of 288 OS...     »
Zeitschriftentitel:
Oncotarget
Jahr:
2015
Band / Volume:
6
Heft / Issue:
10
Seitenangaben Beitrag:
7727-40
Sprache:
eng
Volltext / DOI:
doi:10.18632/oncotarget.3115
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/25762628
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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