Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of HIST1H3I mutations in BL requires confirmation | |
| 2 | Role of HIST1H3I mutations in FL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 6 | 0.0093 | [0.0019,0.0168] |
| FL | GAMBL with Crouch | 1,189 | 14 | 0.0118 | [0.0056,0.0179] |
| FL | BC | 379 | 3 | 0.0079 | [0,0.0168] |
| FL | Kalmbach | 164 | 1 | 0.0061 | [0,0.018] |
| FL | Crouch | 547 | 8 | 0.0146 | [0.0046,0.0247] |
| FL | FL_ICGC | 99 | 2 | 0.0202 | [0,0.0479] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 0 | 0 | [0,0] |
| BL | GAMBL without ICGC/Zhou | 320 | 0 | 0 | [0,0] |
| BL | GAMBL with Panea | 410 | 0 | 0 | [0,0] |
| BL | BLGSP | 219 | 0 | 0 | [0,0] |
| BL | Zhou/ICGC | 90 | 0 | 0 | [0,0] |
| BL | Panea | 101 | 0 | 0 | [0,0] |
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 29 | 0.0266 | [0.0171,0.0362] |
| DLBCL | GAMBL with Reddy | 2,088 | 44 | 0.0211 | [0.0149,0.0272] |
| DLBCL | BC | 231 | 2 | 0.0087 | [0,0.0206] |
| DLBCL | Dana-Farber | 303 | 10 | 0.0330 | [0.0129,0.0531] |
| DLBCL | NCI | 470 | 15 | 0.0319 | [0.016,0.0478] |
| DLBCL | Reddy | 999 | 15 | 0.0150 | [0.0075,0.0226] |
| DLBCL | DLBCL_ICGC | 85 | 2 | 0.0235 | [0,0.0558] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 0.0000 | 0 | 1.0000 |
| FL | 0.6963 | 0 | 1.0000 |
| DLBCL | 0.0000 | 0 | 0.9986 |
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History
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timeline
title Publication timing
2017-01-26 : Krysiak : FL
2019-09-26 : Panea : BL
References
1.
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CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR,
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Recurrent somatic mutations affecting B-cell
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26;129(4):473–483. PMCID: PMC5270390
2.
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