Assessment of TP53 functionality in chronic lymphocytic leukaemia by different assays; an ERIC-wide approach
| Autoři | |
|---|---|
| Rok publikování | 2014 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | British journal of haematology |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | http://onlinelibrary.wiley.com/doi/10.1111/bjh.13006/pdf |
| Doi | http://dx.doi.org/10.1111/bjh.13006 |
| Obor | Onkologie a hematologie |
| Klíčová slova | chronic lymphocytic leukaemia; TP53 function assays; TP53 axis; TP53; ATM |
| Přiložené soubory | |
| Popis | 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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