A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples

. 2011 Jul ; 35 (7) : 889-98. [epub] 20110113

Jazyk angličtina Země Anglie, Velká Británie Médium print-electronic

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/pmid21232794
Odkazy

PubMed 21232794
DOI 10.1016/j.leukres.2010.12.016
PII: S0145-2126(10)00612-0
Knihovny.cz E-zdroje

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.

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TP53 mutation analysis in chronic lymphocytic leukemia: comparison of different detection methods

. 2015 May ; 36 (5) : 3371-80. [epub] 20141220

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