Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
نویسندگان
چکیده
منابع مشابه
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
We have screened two families for constitutional TP53 mutations, one family with Li-Fraumeni syndrome and the other with features of this syndrome. We report a germline mutation in exon 7 of the TP53 gene in the family with "Li-Fraumeni-like" syndrome. The mutation occurred at codon 245 and causes a Gly-Ser amino acid change. It was inherited by both affected and unaffected subjects. Malignant ...
متن کاملTP53 (tumor protein p53 (Li-Fraumeni syndrome))
393 amino acids; 53 kDa protein; numerous post translational modifications: phosphorylation, acetylation, ubiquitination, sumoylation, neddylation. Contains from N-term to C-term, a transactivation domain (1-42), a Proline rich domain (63-97), a specific DNA binding domain (102-292), 3 nuclear localization signals (305-322), a tetramerization domain that include a nuclear export signal (325-355...
متن کاملPrevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
The entire coding sequence of the p53 gene was analysed for the presence of mutations in 12 families conforming to a restricted definition of Li-Fraumeni syndrome (classic LFS) and nine families with features of LFS conforming to a broader definition. Mutations were detected in seven families. Six were point mutations with one each affecting codons 175, 180, and 220 and three affecting codon 24...
متن کاملJoint effects of germ-line p53 mutation and sex on cancer risk in Li-Fraumeni syndrome.
Germ-line p53 mutations have been identified in most families with Li-Fraumeni syndrome (LFS). For germ-line p53 mutation carriers, there is considerable variability with respect to age of cancer onset and tumor type, suggesting that additional genetic effects influence the clinical severity and tumor spectrum. To identify factors that might contribute to the observed heterogeneity in time to o...
متن کاملHeterogeneity of Li-Fraumeni Syndrome links to unequal gain-of-function effects of p53 mutations
Mutations of p53 cause not only loss of wild-type function but also gain of novel oncogenic functions (GOF). Accumulating evidence suggest that p53 hotspot mutations may confer different types and magnitudes of GOF. Here we add support to the heterogeneity of mutant p53 GOF by showing their unequal association with early tumor onset and spectrum of tumor types. We stratified Li-Fraumeni syndrom...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1995
ISSN: 1468-6244
DOI: 10.1136/jmg.32.3.186