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@article{1216491,
author = {Raa te, Doreen G. and Malčíková, Jitka and Mráz, Marek and Trbušek, Martin and GarffandTavernier, M. Le and MerleandBeral, H. and Greil, R. and Merkel, O. and Pospíšilová, Šárka and Lin, K. and Pettitt, A. R. and Stankovic, T. and Oers van, A.R. and Eldering, M.H. and Stilgenbauer, S. and Zenz, T. and Kater, A.P.},
article_location = {England},
article_number = {4},
doi = {http://dx.doi.org/10.1111/bjh.13006},
keywords = {chronic lymphocytic leukaemia; TP53 function assays; TP53 axis; TP53; ATM},
language = {eng},
issn = {0007-1048},
journal = {British journal of haematology},
title = {Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach},
url = {http://onlinelibrary.wiley.com/doi/10.1111/bjh.13006/pdf},
volume = {167},
year = {2014}
}
TY - JOUR
ID - 1216491
AU - 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.
PY - 2014
TI - Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach
JF - British journal of haematology
VL - 167
IS - 4
SP - 565-569
EP - 565-569
PB - Wiley-Blackwell
SN - 00071048
KW - chronic lymphocytic leukaemia
KW - TP53 function assays
KW - TP53 axis
KW - TP53
KW - ATM
UR - http://onlinelibrary.wiley.com/doi/10.1111/bjh.13006/pdf
L2 - http://onlinelibrary.wiley.com/doi/10.1111/bjh.13006/pdf
N2 - 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)
ER -
RAA TE, Doreen G., Jitka MALČÍKOVÁ, Marek MRÁZ, Martin TRBUŠEK, M. Le GARFF-TAVERNIER, H. MERLE-BERAL, R. GREIL, O. MERKEL, Šárka POSPÍŠILOVÁ, K. LIN, A. R. PETTITT, T. STANKOVIC, A.R. OERS VAN, M.H. ELDERING, S. STILGENBAUER, T. ZENZ and A.P. KATER. Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach. \textit{British journal of haematology}. England: Wiley-Blackwell, 2014, vol.~167, No~4, p.~565-569. ISSN~0007-1048. doi:10.1111/bjh.13006.
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