Genetic and functional studies of a germline TP53 splicing mutation in a Li–Fraumeni-like family
✍ Scribed by Varley, J M; Chapman, P; McGown, G; Thorncroft, M; White, G R M; Greaves, M J; Scott, D; Spreadborough, A; Tricker, K J; Birch, J M
- Book ID
- 110061379
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 345 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0950-9232
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The TP53 tumor suppressor gene is the most frequent target for genetic alterations in human cancer. TP53 gene alterations may result in the gain of oncogenic functions such as neoangiogenesis and resistance to therapy. The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from
## Abstract Germline __TP53__ mutations are found in Li‐Fraumeni syndrome (LFS) patients, predisposed to soft tissue sarcoma and other malignancies. The mutations and succeeding genetic events are thought to cause LFS‐associated cancer, whose genetic alterations have rarely been investigated. Here,