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The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families

✍ Scribed by Maria Isabel Waddington Achatz; Magali Olivier; Florence Le Calvez; Ghyslaine Martel-Planche; Ademar Lopes; Benedito Mauro Rossi; Patricia Ashton-Prolla; Roberto Giugliani; Edenir Inez Palmero; Fernando Regla Vargas; José Claudio Casali Da Rocha; Andre Luiz Vettore; Pierre Hainaut

Book ID
116334123
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
165 KB
Volume
245
Category
Article
ISSN
0304-3835

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Li–Fraumeni and Li–Fraumeni-like syndrom
Li–Fraumeni and Li–Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements
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## 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

Association of germline or somatic TP53
Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li-Fraumeni or Li-Fraumeni-like syndrome
✍ Waka Sugawara; Yasuhito Arai; Fumio Kasai; Yuiko Fujiwara; Masayuki Haruta; Rie 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 700 KB

## 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,