Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis
Whole-genome sequence (WGS) analysis of tumors from 22 TP53 mutation carriers. We observed somatic mutations affecting Wnt, PI3K/AKT signaling, epigenetic modifiers and homologous recombination genes as well as mutational signatures associated with prior chemotherapy. We identified near-ubiquitous early loss of heterozygosity of TP53, with gain of the mutant allele. This occurred earlier in these tumors compared to tumors with somatic TP53 mutations, suggesting the timing of this mark may distinguish germline from somatic TP53 mutations. Phylogenetic trees of tumor evolution, reconstructed from bulk and multi-region WGS, revealed that LFS tumors exhibit comparatively limited heterogeneity. Overall, our study delineates early copy number gains of mutant TP53 as a characteristic mutational process in LFS tumorigenesis, likely arising very early in life or in utero.years prior to tumor diagnosis.
- 65 samples
- DAC: EGAC00001002728
- Technologies: HiSeq X Ten, Illumina HiSeq 2500
LFS projects data access policy
At the request of Dr David Malkin and Dr Adam Shlien
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001005982 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00006210065 | fastq.gz | 6.3 GB | ||
| EGAF00006210066 | fastq.gz | 7.4 GB | ||
| EGAF00006210067 | fastq.gz | 6.3 GB | ||
| EGAF00006210068 | fastq.gz | 7.4 GB | ||
| EGAF00006210069 | fastq.gz | 6.5 GB | ||
| EGAF00006210070 | fastq.gz | 7.8 GB | ||
| EGAF00006210071 | fastq.gz | 6.5 GB | ||
| EGAF00006210072 | fastq.gz | 7.8 GB | ||
| EGAF00006210073 | fastq.gz | 6.3 GB | ||
| EGAF00006210074 | fastq.gz | 7.4 GB | ||
| EGAF00006210075 | fastq.gz | 6.4 GB | ||
| EGAF00006210076 | fastq.gz | 7.6 GB | ||
| EGAF00006210077 | fastq.gz | 6.2 GB | ||
| EGAF00006210078 | fastq.gz | 7.4 GB | ||
| EGAF00006210079 | fastq.gz | 6.0 GB | ||
| EGAF00006210080 | fastq.gz | 7.1 GB | ||
| EGAF00006210081 | fastq.gz | 46.4 GB | ||
| EGAF00006210082 | fastq.gz | 50.6 GB | ||
| EGAF00006210083 | fastq.gz | 46.1 GB | ||
| EGAF00006210084 | fastq.gz | 50.4 GB | ||
| EGAF00006210085 | fastq.gz | 4.8 GB | ||
| EGAF00006210086 | fastq.gz | 5.6 GB | ||
| EGAF00006210087 | fastq.gz | 4.9 GB | ||
| EGAF00006210088 | fastq.gz | 5.7 GB | ||
| EGAF00006210089 | fastq.gz | 4.9 GB | ||
| EGAF00006210090 | fastq.gz | 5.7 GB | ||
| EGAF00006210091 | fastq.gz | 4.8 GB | ||
| EGAF00006210092 | fastq.gz | 5.7 GB | ||
| EGAF00006210093 | fastq.gz | 4.9 GB | ||
| EGAF00006210094 | fastq.gz | 5.7 GB | ||
| EGAF00006210095 | fastq.gz | 4.9 GB | ||
| EGAF00006210096 | fastq.gz | 5.7 GB | ||
| EGAF00006210097 | fastq.gz | 4.9 GB | ||
| EGAF00006210098 | fastq.gz | 5.8 GB | ||
| EGAF00006210099 | fastq.gz | 4.8 GB | ||
| EGAF00006210100 | fastq.gz | 5.6 GB | ||
| EGAF00006210101 | fastq.gz | 5.1 GB | ||
| EGAF00006210102 | fastq.gz | 6.0 GB | ||
| EGAF00006210103 | fastq.gz | 5.1 GB | ||
| EGAF00006210104 | fastq.gz | 6.0 GB | ||
| EGAF00006210105 | fastq.gz | 5.2 GB | ||
| EGAF00006210106 | fastq.gz | 6.0 GB | ||
| EGAF00006210107 | fastq.gz | 5.2 GB | ||
| EGAF00006210108 | fastq.gz | 6.1 GB | ||
| EGAF00006210109 | fastq.gz | 5.3 GB | ||
| EGAF00006210110 | fastq.gz | 6.1 GB | ||
| EGAF00006210111 | fastq.gz | 5.3 GB | ||
| EGAF00006210112 | fastq.gz | 6.2 GB | ||
| EGAF00006210113 | fastq.gz | 5.3 GB | ||
| EGAF00006210114 | fastq.gz | 6.1 GB | ||
| EGAF00006210115 | fastq.gz | 5.3 GB | ||
| EGAF00006210116 | fastq.gz | 6.1 GB | ||
| EGAF00006210117 | fastq.gz | 46.3 GB | ||
| EGAF00006210118 | fastq.gz | 50.4 GB | ||
| EGAF00006210119 | fastq.gz | 46.4 GB | ||
| EGAF00006210120 | fastq.gz | 51.2 GB | ||
| EGAF00006210121 | fastq.gz | 4.5 GB | ||
| EGAF00006210122 | fastq.gz | 5.2 GB | ||
| EGAF00006210123 | fastq.gz | 4.5 GB | ||
| EGAF00006210124 | fastq.gz | 5.2 GB | ||
| EGAF00006210125 | fastq.gz | 4.6 GB | ||
| EGAF00006210126 | fastq.gz | 5.2 GB | ||
| EGAF00006210127 | fastq.gz | 4.6 GB | ||
| EGAF00006210128 | fastq.gz | 5.3 GB | ||
| EGAF00006210129 | fastq.gz | 4.7 GB | ||
| EGAF00006210130 | fastq.gz | 5.3 GB | ||
| EGAF00006210131 | fastq.gz | 4.7 GB | ||
| EGAF00006210132 | fastq.gz | 5.4 GB | ||
| EGAF00006210133 | fastq.gz | 4.6 GB | ||
| EGAF00006210134 | fastq.gz | 5.3 GB | ||
| EGAF00006210135 | fastq.gz | 4.6 GB | ||
| EGAF00006210136 | fastq.gz | 5.3 GB | ||
| EGAF00006210137 | fastq.gz | 5.2 GB | ||
| EGAF00006210138 | fastq.gz | 6.1 GB | ||
| EGAF00006210139 | fastq.gz | 5.2 GB | ||
| EGAF00006210140 | fastq.gz | 6.1 GB | ||
| EGAF00006210141 | fastq.gz | 5.3 GB | ||
| EGAF00006210142 | fastq.gz | 6.2 GB | ||
| EGAF00006210143 | fastq.gz | 5.3 GB | ||
| EGAF00006210144 | fastq.gz | 6.2 GB | ||
| EGAF00006210145 | fastq.gz | 5.3 GB | ||
| EGAF00006210146 | fastq.gz | 6.2 GB | ||
| EGAF00006210147 | fastq.gz | 5.3 GB | ||
| EGAF00006210148 | fastq.gz | 6.3 GB | ||
| EGAF00006210149 | fastq.gz | 5.4 GB | ||
| EGAF00006210150 | fastq.gz | 6.3 GB | ||
| EGAF00006210151 | fastq.gz | 5.4 GB | ||
| EGAF00006210152 | fastq.gz | 6.3 GB | ||
| EGAF00006210155 | fastq.gz | 46.8 GB | ||
| EGAF00006210156 | fastq.gz | 51.0 GB | ||
| EGAF00006210157 | fastq.gz | 46.3 GB | ||
| EGAF00006210158 | fastq.gz | 50.9 GB | ||
| EGAF00006210159 | fastq.gz | 45.8 GB | ||
| EGAF00006210160 | fastq.gz | 50.1 GB | ||
| EGAF00006210161 | fastq.gz | 45.8 GB | ||
| EGAF00006210162 | fastq.gz | 50.2 GB | ||
| EGAF00006210163 | fastq.gz | 46.1 GB | ||
| EGAF00006210164 | fastq.gz | 50.6 GB | ||
| EGAF00006210165 | fastq.gz | 45.7 GB | ||
| EGAF00006210166 | fastq.gz | 50.6 GB | ||
| EGAF00006210167 | fastq.gz | 2.8 GB | ||
| EGAF00006210168 | fastq.gz | 2.9 GB | ||
| EGAF00006210169 | fastq.gz | 7.1 GB | ||
| EGAF00006210170 | fastq.gz | 8.6 GB | ||
| EGAF00006210171 | fastq.gz | 7.3 GB | ||
| EGAF00006210172 | fastq.gz | 8.8 GB | ||
| EGAF00006210173 | fastq.gz | 7.5 GB | ||
| EGAF00006210174 | fastq.gz | 9.0 GB | ||
| EGAF00006210175 | fastq.gz | 7.3 GB | ||
| EGAF00006210176 | fastq.gz | 8.9 GB | ||
| EGAF00006210177 | fastq.gz | 7.5 GB | ||
| EGAF00006210178 | fastq.gz | 9.1 GB | ||
| EGAF00006210179 | fastq.gz | 2.9 GB | ||
| EGAF00006210180 | fastq.gz | 2.9 GB | ||
| EGAF00006210181 | fastq.gz | 8.0 GB | ||
| EGAF00006210182 | fastq.gz | 9.6 GB | ||
| EGAF00006210183 | fastq.gz | 8.3 GB | ||
| EGAF00006210184 | fastq.gz | 9.9 GB | ||
| EGAF00006210185 | fastq.gz | 8.5 GB | ||
| EGAF00006210186 | fastq.gz | 10.1 GB | ||
| EGAF00006210187 | fastq.gz | 8.3 GB | ||
| EGAF00006210188 | fastq.gz | 9.9 GB | ||
| EGAF00006210189 | fastq.gz | 8.5 GB | ||
| EGAF00006210190 | fastq.gz | 10.2 GB | ||
| EGAF00006210191 | fastq.gz | 3.2 GB | ||
| EGAF00006210192 | fastq.gz | 3.2 GB | ||
| EGAF00006210193 | fastq.gz | 8.1 GB | ||
| EGAF00006210194 | fastq.gz | 9.4 GB | ||
| EGAF00006210195 | fastq.gz | 8.1 GB | ||
| EGAF00006210196 | fastq.gz | 9.4 GB | ||
| EGAF00006210197 | fastq.gz | 8.2 GB | ||
| EGAF00006210198 | fastq.gz | 9.6 GB | ||
| EGAF00006210199 | fastq.gz | 8.1 GB | ||
| EGAF00006210200 | fastq.gz | 9.4 GB | ||
| EGAF00006210201 | fastq.gz | 8.2 GB | ||
| EGAF00006210202 | fastq.gz | 9.6 GB | ||
| EGAF00006210203 | fastq.gz | 3.2 GB | ||
| EGAF00006210204 | fastq.gz | 3.3 GB | ||
| EGAF00006210205 | fastq.gz | 7.0 GB | ||
| EGAF00006210206 | fastq.gz | 8.3 GB | ||
| EGAF00006210207 | fastq.gz | 7.2 GB | ||
| EGAF00006210208 | fastq.gz | 8.5 GB | ||
| EGAF00006210209 | fastq.gz | 7.3 GB | ||
| EGAF00006210210 | fastq.gz | 8.8 GB | ||
| EGAF00006210211 | fastq.gz | 7.2 GB | ||
| EGAF00006210212 | fastq.gz | 8.6 GB | ||
| EGAF00006210213 | fastq.gz | 7.4 GB | ||
| EGAF00006210214 | fastq.gz | 8.8 GB | ||
| EGAF00006210215 | fastq.gz | 7.9 GB | ||
| EGAF00006210216 | fastq.gz | 9.2 GB | ||
| EGAF00006210217 | fastq.gz | 8.0 GB | ||
| EGAF00006210218 | fastq.gz | 9.3 GB | ||
| EGAF00006210219 | fastq.gz | 8.1 GB | ||
| EGAF00006210220 | fastq.gz | 9.5 GB | ||
| EGAF00006210221 | fastq.gz | 8.0 GB | ||
| EGAF00006210222 | fastq.gz | 9.4 GB | ||
| EGAF00006210223 | fastq.gz | 8.2 GB | ||
| EGAF00006210224 | fastq.gz | 9.6 GB | ||
| EGAF00006210225 | fastq.gz | 3.3 GB | ||
| EGAF00006210226 | fastq.gz | 3.3 GB | ||
| EGAF00006210227 | fastq.gz | 44.2 GB | ||
| EGAF00006210228 | fastq.gz | 48.4 GB | ||
| EGAF00006210229 | fastq.gz | 45.1 GB | ||
| EGAF00006210230 | fastq.gz | 50.0 GB | ||
| EGAF00006210231 | fastq.gz | 46.3 GB | ||
| EGAF00006210232 | fastq.gz | 51.1 GB | ||
| EGAF00006210233 | fastq.gz | 44.3 GB | ||
| EGAF00006210234 | fastq.gz | 48.1 GB | ||
| EGAF00006210235 | fastq.gz | 41.6 GB | ||
| EGAF00006210236 | fastq.gz | 45.1 GB | ||
| EGAF00006210237 | fastq.gz | 42.1 GB | ||
| EGAF00006210238 | fastq.gz | 46.3 GB | ||
| EGAF00006210239 | fastq.gz | 41.9 GB | ||
| EGAF00006210240 | fastq.gz | 45.3 GB | ||
| EGAF00006210241 | fastq.gz | 42.7 GB | ||
| EGAF00006210242 | fastq.gz | 45.9 GB | ||
| EGAF00006210243 | fastq.gz | 42.2 GB | ||
| EGAF00006210244 | fastq.gz | 45.4 GB | ||
| EGAF00006210245 | fastq.gz | 40.0 GB | ||
| EGAF00006210246 | fastq.gz | 43.2 GB | ||
| EGAF00006210247 | fastq.gz | 40.5 GB | ||
| EGAF00006210248 | fastq.gz | 43.5 GB | ||
| EGAF00006210249 | fastq.gz | 41.7 GB | ||
| EGAF00006210250 | fastq.gz | 44.3 GB | ||
| EGAF00006210251 | fastq.gz | 41.6 GB | ||
| EGAF00006210252 | fastq.gz | 44.1 GB | ||
| EGAF00006210253 | fastq.gz | 41.5 GB | ||
| EGAF00006210254 | fastq.gz | 44.7 GB | ||
| EGAF00006210255 | fastq.gz | 41.2 GB | ||
| EGAF00006210256 | fastq.gz | 44.3 GB | ||
| EGAF00006210257 | fastq.gz | 41.4 GB | ||
| EGAF00006210258 | fastq.gz | 45.1 GB | ||
| EGAF00006210259 | fastq.gz | 42.2 GB | ||
| EGAF00006210260 | fastq.gz | 46.1 GB | ||
| EGAF00006210261 | fastq.gz | 43.1 GB | ||
| EGAF00006210262 | fastq.gz | 46.2 GB | ||
| EGAF00006210263 | fastq.gz | 43.2 GB | ||
| EGAF00006210264 | fastq.gz | 45.8 GB | ||
| EGAF00006210265 | fastq.gz | 43.6 GB | ||
| EGAF00006210266 | fastq.gz | 48.6 GB | ||
| EGAF00006210267 | fastq.gz | 42.9 GB | ||
| EGAF00006210268 | fastq.gz | 46.5 GB | ||
| EGAF00006210269 | fastq.gz | 42.6 GB | ||
| EGAF00006210270 | fastq.gz | 46.4 GB | ||
| EGAF00006210271 | fastq.gz | 44.9 GB | ||
| EGAF00006210272 | fastq.gz | 48.6 GB | ||
| EGAF00006210273 | fastq.gz | 44.1 GB | ||
| EGAF00006210274 | fastq.gz | 47.6 GB | ||
| EGAF00006210275 | fastq.gz | 41.9 GB | ||
| EGAF00006210276 | fastq.gz | 47.6 GB | ||
| EGAF00006210277 | fastq.gz | 43.0 GB | ||
| EGAF00006210278 | fastq.gz | 46.5 GB | ||
| EGAF00006822093 | fastq.gz | 43.3 GB | ||
| EGAF00006822094 | fastq.gz | 50.2 GB | ||
| EGAF00006822095 | fastq.gz | 43.7 GB | ||
| EGAF00006822096 | fastq.gz | 48.6 GB | ||
| EGAF00006822097 | fastq.gz | 43.5 GB | ||
| EGAF00006822098 | fastq.gz | 45.4 GB | ||
| EGAF00006822099 | fastq.gz | 47.0 GB | ||
| EGAF00006822100 | fastq.gz | 48.7 GB | ||
| EGAF00006822101 | fastq.gz | 43.9 GB | ||
| EGAF00006822102 | fastq.gz | 45.4 GB | ||
| EGAF00006822103 | fastq.gz | 48.9 GB | ||
| EGAF00006822104 | fastq.gz | 51.5 GB | ||
| EGAF00006822105 | fastq.gz | 46.0 GB | ||
| EGAF00006822106 | fastq.gz | 47.6 GB | ||
| EGAF00006822107 | fastq.gz | 44.6 GB | ||
| EGAF00006822108 | fastq.gz | 46.3 GB | ||
| EGAF00006822109 | fastq.gz | 44.7 GB | ||
| EGAF00006822110 | fastq.gz | 45.9 GB | ||
| EGAF00006822111 | fastq.gz | 44.9 GB | ||
| EGAF00006822112 | fastq.gz | 46.3 GB | ||
| EGAF00006822113 | fastq.gz | 43.7 GB | ||
| EGAF00006822114 | fastq.gz | 45.4 GB | ||
| EGAF00006822115 | fastq.gz | 45.1 GB | ||
| EGAF00006822116 | fastq.gz | 46.4 GB | ||
| EGAF00006822117 | fastq.gz | 42.0 GB | ||
| EGAF00006822118 | fastq.gz | 45.8 GB | ||
| EGAF00006822119 | fastq.gz | 43.5 GB | ||
| EGAF00006822120 | fastq.gz | 47.1 GB | ||
| EGAF00006822121 | fastq.gz | 44.0 GB | ||
| EGAF00006822122 | fastq.gz | 47.4 GB | ||
| EGAF00006822123 | fastq.gz | 43.6 GB | ||
| EGAF00006822124 | fastq.gz | 46.6 GB | ||
| EGAF00006822125 | fastq.gz | 45.7 GB | ||
| EGAF00006822126 | fastq.gz | 49.2 GB | ||
| EGAF00006822127 | fastq.gz | 43.1 GB | ||
| EGAF00006822128 | fastq.gz | 47.4 GB | ||
| EGAF00006822129 | fastq.gz | 42.8 GB | ||
| EGAF00006822130 | fastq.gz | 47.4 GB | ||
| EGAF00006822131 | fastq.gz | 44.3 GB | ||
| EGAF00006822132 | fastq.gz | 48.1 GB | ||
| EGAF00006822133 | fastq.gz | 43.7 GB | ||
| EGAF00006822134 | fastq.gz | 47.0 GB | ||
| EGAF00006822137 | fastq.gz | 44.5 GB | ||
| EGAF00006822138 | fastq.gz | 48.0 GB | ||
| EGAF00006822139 | fastq.gz | 45.8 GB | ||
| EGAF00006822140 | fastq.gz | 47.5 GB | ||
| EGAF00006822141 | fastq.gz | 43.7 GB | ||
| EGAF00006822142 | fastq.gz | 47.4 GB | ||
| EGAF00006822143 | fastq.gz | 43.7 GB | ||
| EGAF00006822144 | fastq.gz | 46.5 GB | ||
| EGAF00006822147 | fastq.gz | 45.0 GB | ||
| EGAF00006822148 | fastq.gz | 50.2 GB | ||
| EGAF00006822149 | fastq.gz | 44.5 GB | ||
| EGAF00006822150 | fastq.gz | 48.3 GB | ||
| EGAF00006822151 | fastq.gz | 43.2 GB | ||
| EGAF00006822152 | fastq.gz | 47.3 GB | ||
| EGAF00006822153 | fastq.gz | 42.6 GB | ||
| EGAF00006822154 | fastq.gz | 46.0 GB | ||
| EGAF00006822155 | fastq.gz | 43.6 GB | ||
| EGAF00006822156 | fastq.gz | 47.8 GB | ||
| EGAF00006822157 | fastq.gz | 44.0 GB | ||
| EGAF00006822158 | fastq.gz | 48.1 GB | ||
| EGAF00006822159 | fastq.gz | 45.2 GB | ||
| EGAF00006822160 | fastq.gz | 48.0 GB | ||
| EGAF00006822161 | fastq.gz | 45.1 GB | ||
| EGAF00006822162 | fastq.gz | 48.5 GB | ||
| EGAF00006822163 | fastq.gz | 45.3 GB | ||
| EGAF00006822164 | fastq.gz | 49.1 GB | ||
| EGAF00006822165 | fastq.gz | 45.6 GB | ||
| EGAF00006822166 | fastq.gz | 49.3 GB | ||
| EGAF00008571467 | fastq.gz | 42.4 GB | ||
| EGAF00008571468 | fastq.gz | 48.7 GB | ||
| EGAF00008571469 | fastq.gz | 37.4 GB | ||
| EGAF00008571470 | fastq.gz | 48.5 GB | ||
| 286 Files (7.6 TB) | ||||