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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.

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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)