A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples
Language English Country Great Britain, England Media print-electronic
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
21232794
DOI
10.1016/j.leukres.2010.12.016
PII: S0145-2126(10)00612-0
Knihovny.cz E-resources
- MeSH
- Alternative Splicing MeSH
- Chromosome Deletion MeSH
- Leukemia, Lymphocytic, Chronic, B-Cell diagnosis genetics MeSH
- Humans MeSH
- RNA, Messenger genetics MeSH
- Mutation genetics MeSH
- Mutagenesis, Site-Directed MeSH
- Biomarkers, Tumor genetics metabolism MeSH
- Tumor Suppressor Protein p53 genetics MeSH
- Follow-Up Studies MeSH
- Reverse Transcriptase Polymerase Chain Reaction MeSH
- Prognosis MeSH
- Oligonucleotide Array Sequence Analysis MeSH
- Gene Expression Profiling MeSH
- Blotting, Western MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- RNA, Messenger MeSH
- Biomarkers, Tumor MeSH
- Tumor Suppressor Protein p53 MeSH
- TP53 protein, human MeSH Browser
TP53 plays a pivotal role in the process of DNA repair and apoptosis. In 10-20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed.
References provided by Crossref.org
TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods