p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies
✍ Scribed by Claudia Pötzsch; Theda Voigtländer; Michael Lübbert
- Publisher
- Springer-Verlag
- Year
- 2002
- Tongue
- English
- Weight
- 124 KB
- Volume
- 128
- Category
- Article
- ISSN
- 1432-1335
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## 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,
## Abstract Mutations in codon 133 of __p53__, which cause the loss of the Δ133 isoform(s) expression, are very frequent in the Li–Fraumeni (LF) and Li–Fraumeni‐like (LFL) syndromes. In sporadic cancers, silent __p53__ mutations are correlated with exonic splicing enhancers (ESEs) and exonic methyl
A woman with a family history of brain tumors in her daughter and sister presented with a breast cancer. She subsequently developed two metachronous primary tumors: a small-cell lung cancer and a colon carcinoma. These tumors arose within the internal mammary radiotherapy field and within the field
## Abstract Germline mutations in the __p53__ tumor suppressor gene have been identified in patients with Li‐Fraumeni syndrome (LFS) and patients with Li‐Fraumeni‐like syndrome (LFL). However, to date, germline __p53__ mutations in patients not fulfilling the criteria of LFS or LFL have been report