| 000 | nab a22 7a 4500 | ||
|---|---|---|---|
| 999 |
_c16567 _d16567 |
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| 003 | PC16567 | ||
| 005 | 20210811103417.0 | ||
| 008 | 210802b xxu||||| |||| 00| 0 eng d | ||
| 040 | _cH12O | ||
| 041 | _aeng | ||
| 100 |
_91468 _aRapado Martínez, Inmaculada _eInstituto de Investigación i+12 |
||
| 245 | 0 | 0 |
_aRAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. _h[artículo] |
| 260 |
_bNature genetics, _c2014 |
||
| 300 | _a46(2):116-25. | ||
| 500 | _aFormato Vancouver: Papaemmanuil E, Rapado I, Li Y, Potter NE, Wedge DC, Tubio J et al. RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. Nat Genet. 2014 Feb;46(2):116-25. | ||
| 501 | _aPMID: 24413735 PMC3960636 | ||
| 504 | _aContiene 56 referencias | ||
| 520 | _aThe ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL) cases, is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, characterized by recombination signal sequence motifs near breakpoints, incorporation of non-templated sequence at junctions, ∼30-fold enrichment at promoters and enhancers of genes actively transcribed in B cell development and an unexpectedly high ratio of recurrent to non-recurrent structural variants. Single-cell tracking shows that this mechanism is active throughout leukemic evolution, with evidence of localized clustering and reiterated deletions. Integration of data on point mutations and rearrangements identifies ATF7IP and MGA as two new tumor-suppressor genes in ALL. Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1-positive lymphoblasts, targeting the promoters, enhancers and first exons of genes that normally regulate B cell differentiation. | ||
| 710 |
_9625 _aInstituto de Investigación imas12 |
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| 856 |
_uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960636/ _yAcceso libre |
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| 942 |
_2ddc _cART _n0 |
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