Spectrum of p53 mutations in low-grade B-cell malignancies

Bromidge, Teresa; Johnson, Stephen A.; Howe, Denise

doi:10.1038/sj.leu.2405002

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…The compiled cohort consisted of 186 TP53 mutations in CLL. 11,[20][21][22][23] The CLL cohort without TP53 mutations was from the same cohorts (Ulm: single center, first line treatment trial, refractory CLL trial). Cases with wild type were included in the matching control.…”

Section: Databases and Referencesmentioning

confidence: 99%

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TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations

et al. 2010

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The TP53 mutation profile in chronic lymphocytic leukemia (CLL) and the correlation of TP53 mutations with allele status or associated molecular genetics are currently unknown. We performed a large mutation analysis of TP53 at four centers and characterized the pattern of TP53 mutations in CLL. We report on 268 mutations in 254 patients with CLL. Missense mutations appeared in 74% of cases compared with deletions and insertions (20%), nonsense (4%) and splice site (2%) mutations. The majority (243 of 268) of mutations were located in the DNA-binding domain. Transitions were found in 131 of 268 mutations, with only 41 occurring at methylated CpG sites (15%), suggesting that transitions at CpGs are uncommon. The codons most frequently mutated were at positions 175, 179, 248 and 273; in addition, we detected a common 2-nt deletion in the codon 209. Most mutations (199 of 259) were accompanied by deletion of the other allele (17p-). Interestingly, trisomy 12 (without 17p-) was only found in one of 60 cases with TP53 mutation (without 17p-) compared with 60 of 16 in the cohort without mutation (P ¼ 0.006). The mutational profile was not different in the cohorts with and without previous therapy, suggesting that the mechanism underlying the development of mutations may be similar, independent of treatment.

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Section: Databases and Referencesmentioning

confidence: 99%

“…The studies that have been reported included 13À46 patients with mutations and therefore these results are subject to bias. [11][12][13][14] In addition, detailed analysis of clinical or genetic characteristics was not possible and is also not possible from an analysis of the databases.…”

Section: Introductionmentioning

confidence: 99%

TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations

et al. 2010

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Diagnostic techniques and therapeutic challenges in patients withTP53dysfunctional chronic lymphocytic leukemia

Best

Thompson

Tam

2012

Leukemia & Lymphoma

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Aberrations of the TP53 pathway, whether by deletion or mutation, are increasingly recognized as one of the most important biological risk factors in chronic lymphocytic leukemia. Yet, there is little consensus on how to assess for TP53 defects in the clinic, and very few clinical studies to guide optimal management of such patients. In this review, we discuss the state-of-the-art in the assessment of the TP53 pathway, and review the evidence-base for therapeutic recommendations.

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Spectrum of p53 mutations in low-grade B-cell malignancies

Cited by 2 publications

References 9 publications

TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations

TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations

Diagnostic techniques and therapeutic challenges in patients withTP53dysfunctional chronic lymphocytic leukemia

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