ea1cc6fe9bfb3b71b391372e73aff3eba3366042
DDX3X.md
| ... | ... | @@ -1,7 +1,14 @@ |
| 1 | +--- |
|
| 2 | +bibliography: 'morinlab.bib' |
|
| 3 | +csl: 'NLM.csl' |
|
| 4 | +link-citations: true |
|
| 5 | +--- |
|
| 1 | 6 | # DDX3X |
| 2 | 7 | |
| 3 | 8 | ## Overview |
| 4 | -Mutations in the DDX3X gene, which encodes an RNA helicase involved in various aspects of RNA metabolism, have significant implications in B-cell lymphomas, including BL, DLBCL, and other related malignancies and are particularly enriched within MYC-translocated tumors and those expressing the dark zone signature (DZsig).<sup>1</sup> These mutations are predominantly loss-of-function (LOF) mutations, affecting the helicase domain of the protein.<sup>2</sup> Missense mutations are predominantly found in male patients and rarely in females, hence showing a sex-specific pattern.<sup>3</sup> |
|
| 9 | +Mutations in the DDX3X gene, which encodes an RNA helicase involved in various aspects of RNA metabolism, have significant implications in B-cell lymphomas, including BL, DLBCL, and other related malignancies and are particularly enriched within MYC-translocated tumors and those expressing the dark zone signature (DZsig).[@ennishiDoubleHitGeneExpression2019] |
|
| 10 | +These mutations are predominantly loss-of-function (LOF) mutations, affecting the helicase domain of the protein.<sup>2</sup> Missense mutations are predominantly found in male patients and rarely in females, hence showing a sex-specific pattern.<sup>3</sup> |
|
| 11 | + |
|
| 5 | 12 | ## History |
| 6 | 13 | ```mermaid |
| 7 | 14 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
| ... | ... | @@ -16,9 +23,9 @@ timeline |
| 16 | 23 | |
| 17 | 24 | |Entity|Tier|Description | |
| 18 | 25 | |:------:|:----:|--------------------------------------| |
| 19 | -||1|high-confidence PMBL/cHL/GZL gene| |
|
| 20 | -| |1 | high-confidence BL gene | |
|
| 21 | -| |1 | high-confidence DLBCL gene | |
|
| 26 | +||1|high-confidence PMBL/cHL/GZL gene[@mottokIntegrativeGenomicAnalysis2019b]| |
|
| 27 | +| |1 | high-confidence BL gene [@schmitzBurkittLymphomaPathogenesis2012]| |
|
| 28 | +| |1 | high-confidence DLBCL gene [@schmitzGeneticsPathogenesisDiffuse2018a]| |
|
| 22 | 29 | | |2 | Although recurrent, the relevance of mutations in FL is tenuous | |
| 23 | 30 | |
| 24 | 31 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |