Article
TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.
Oncotarget - 10 Apr 2015
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 excerpt
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...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Base Sequence
- Bone Neoplasms
- Child
- Child, Preschool
- Gene Rearrangement
- Genes, p53