Abstract |
Genetic modifications of the BCL6 gene in lymphoma include translocations, deletions, and somatic mutations (SM) of the 5' noncoding region. Three single-nucleotide polymorphisms (SNPs) of the major mutation cluster region (MMC) have been reported, including two substitutions (397G/C, 502G/A) and one deletion (520DeltaT). Clinical and biological relevance of these SNPs are unknown. Based on a case-control study, BCL6 SNPs frequencies were assessed in 97 t(14;18) follicular lymphomas (FL) and in 54 lymphomas with 3q27 rearrangement. Allele frequencies were similar in the FL and controls groups. The 397 G/C genotype was correlated to a higher-grade transformation risk (P=0.02). SM were observed in 39.1% of FL and were characterized by a clustering distribution (hot spots spanning position 420-435, 106-127, and 590-600). No correlation between genotypes or acquired mutational status and BCL6 expression was demonstrated. However, gel mobility-shift assays, using SNPs containing probes show results representative for protein/ DNA complexes. This study demonstrates that the first BCL6 intron is a highly variable region as a consequence of both SNP and SM, which may contribute to biology and outcome of FL.
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Authors | F Jardin, P Ruminy, F Parmentier, J M Picquenot, M N Courel, P Bertrand, G Buchonnet, H Tilly, C Bastard |
Journal | Leukemia
(Leukemia)
Vol. 19
Issue 10
Pg. 1824-30
(Oct 2005)
ISSN: 0887-6924 [Print] England |
PMID | 16094416
(Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA-Binding Proteins
- Proto-Oncogene Proteins
- Proto-Oncogene Proteins c-bcl-6
- Transcription Factors
- DNA
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Topics |
- Adult
- Aged
- Aged, 80 and over
- Case-Control Studies
- Chromosomes, Human, Pair 14
(genetics)
- Chromosomes, Human, Pair 18
(genetics)
- Chromosomes, Human, Pair 3
(genetics)
- DNA
(genetics, metabolism)
- DNA Mutational Analysis
- DNA-Binding Proteins
(genetics, metabolism)
- Electrophoretic Mobility Shift Assay
- Female
- Gene Expression Regulation, Neoplastic
- Gene Rearrangement
- Humans
- Introns
(genetics)
- Lymphoma, Follicular
(genetics, metabolism)
- Lymphoma, Large B-Cell, Diffuse
(genetics)
- Male
- Middle Aged
- Mutation
- Polymorphism, Single Nucleotide
(genetics)
- Proto-Oncogene Proteins
(genetics, metabolism)
- Proto-Oncogene Proteins c-bcl-6
- Transcription Factors
(genetics, metabolism)
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