Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach

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Authors

RAA TE Doreen G. MALČÍKOVÁ Jitka MRÁZ Marek TRBUŠEK Martin GARFF-TAVERNIER M. Le MERLE-BERAL H. GREIL R. MERKEL O. POSPÍŠILOVÁ Šárka LIN K. PETTITT A. R. STANKOVIC T. OERS VAN A.R. ELDERING M.H. STILGENBAUER S. ZENZ T. KATER A.P.

Year of publication 2014
Type Article in Periodical
Magazine / Source British journal of haematology
MU Faculty or unit

Central European Institute of Technology

Citation
Web http://onlinelibrary.wiley.com/doi/10.1111/bjh.13006/pdf
Doi http://dx.doi.org/10.1111/bjh.13006
Field Oncology and hematology
Keywords chronic lymphocytic leukaemia; TP53 function assays; TP53 axis; TP53; ATM
Attached files
Description Chronic lymphocytic leukaemia (CLL) is characterized by an extremely variable clinical course, in which deletions of TP53 and ATM , regulators of the DNA-damage response (DDR-) pathway, are powerful predictors for adverse outcome and response to chemotherapy (Dohner et al , 2000). Deletions of chromosome 17p ( TP53 ) and 11q ( ATM ) coincide with TP53 and ATM mutations respectively, however with mark- edly different frequencies (80% and 40% respectively; Mal- cikova et al , 2009; Navrkalova et al , 2013). Sole TP53 mutations and deletions usually lead to TP53 (p53) dysfunc- tion (Mohr et al , 2011) and, in case of deletions in ATM ,a mutation of the residual ATM allele determines whether there is complete ATM inactivation resulting in TP53-dys- function (Navrkalova et al , 2013). Therefore, analysis of mutations in TP53 and ATM genes in addition to fluorescent in situ hybridization (FISH) analysis is of additional clinical value (Skowronska et al , 2012). However, mutational analysis of TP53 and ATM is currently not standardized and is chal- lenging, especially for ATM due to extreme gene size with lack of well-characterized mutations (Navrkalova et al , 2013)
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