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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 Quality Report
Located in
EGAF00006210065 fastq.gz 6.3 GB Report
EGAF00006210066 fastq.gz 7.4 GB Report
EGAF00006210067 fastq.gz 6.3 GB Report
EGAF00006210068 fastq.gz 7.4 GB Report
EGAF00006210069 fastq.gz 6.5 GB Report
EGAF00006210070 fastq.gz 7.8 GB Report
EGAF00006210071 fastq.gz 6.5 GB Report
EGAF00006210072 fastq.gz 7.8 GB Report
EGAF00006210073 fastq.gz 6.3 GB Report
EGAF00006210074 fastq.gz 7.4 GB Report
EGAF00006210075 fastq.gz 6.4 GB Report
EGAF00006210076 fastq.gz 7.6 GB Report
EGAF00006210077 fastq.gz 6.2 GB Report
EGAF00006210078 fastq.gz 7.4 GB Report
EGAF00006210079 fastq.gz 6.0 GB Report
EGAF00006210080 fastq.gz 7.1 GB Report
EGAF00006210081 fastq.gz 46.4 GB Report
EGAF00006210082 fastq.gz 50.6 GB Report
EGAF00006210083 fastq.gz 46.1 GB Report
EGAF00006210084 fastq.gz 50.4 GB Report
EGAF00006210085 fastq.gz 4.8 GB Report
EGAF00006210086 fastq.gz 5.6 GB Report
EGAF00006210087 fastq.gz 4.9 GB Report
EGAF00006210088 fastq.gz 5.7 GB Report
EGAF00006210089 fastq.gz 4.9 GB Report
EGAF00006210090 fastq.gz 5.7 GB Report
EGAF00006210091 fastq.gz 4.8 GB Report
EGAF00006210092 fastq.gz 5.7 GB Report
EGAF00006210093 fastq.gz 4.9 GB Report
EGAF00006210094 fastq.gz 5.7 GB Report
EGAF00006210095 fastq.gz 4.9 GB Report
EGAF00006210096 fastq.gz 5.7 GB Report
EGAF00006210097 fastq.gz 4.9 GB Report
EGAF00006210098 fastq.gz 5.8 GB Report
EGAF00006210099 fastq.gz 4.8 GB Report
EGAF00006210100 fastq.gz 5.6 GB Report
EGAF00006210101 fastq.gz 5.1 GB Report
EGAF00006210102 fastq.gz 6.0 GB Report
EGAF00006210103 fastq.gz 5.1 GB Report
EGAF00006210104 fastq.gz 6.0 GB Report
EGAF00006210105 fastq.gz 5.2 GB Report
EGAF00006210106 fastq.gz 6.0 GB Report
EGAF00006210107 fastq.gz 5.2 GB Report
EGAF00006210108 fastq.gz 6.1 GB Report
EGAF00006210109 fastq.gz 5.3 GB Report
EGAF00006210110 fastq.gz 6.1 GB Report
EGAF00006210111 fastq.gz 5.3 GB Report
EGAF00006210112 fastq.gz 6.2 GB Report
EGAF00006210113 fastq.gz 5.3 GB Report
EGAF00006210114 fastq.gz 6.1 GB Report
EGAF00006210115 fastq.gz 5.3 GB Report
EGAF00006210116 fastq.gz 6.1 GB Report
EGAF00006210117 fastq.gz 46.3 GB Report
EGAF00006210118 fastq.gz 50.4 GB Report
EGAF00006210119 fastq.gz 46.4 GB Report
EGAF00006210120 fastq.gz 51.2 GB Report
EGAF00006210121 fastq.gz 4.5 GB Report
EGAF00006210122 fastq.gz 5.2 GB Report
EGAF00006210123 fastq.gz 4.5 GB Report
EGAF00006210124 fastq.gz 5.2 GB Report
EGAF00006210125 fastq.gz 4.6 GB Report
EGAF00006210126 fastq.gz 5.2 GB Report
EGAF00006210127 fastq.gz 4.6 GB Report
EGAF00006210128 fastq.gz 5.3 GB Report
EGAF00006210129 fastq.gz 4.7 GB Report
EGAF00006210130 fastq.gz 5.3 GB Report
EGAF00006210131 fastq.gz 4.7 GB Report
EGAF00006210132 fastq.gz 5.4 GB Report
EGAF00006210133 fastq.gz 4.6 GB Report
EGAF00006210134 fastq.gz 5.3 GB Report
EGAF00006210135 fastq.gz 4.6 GB Report
EGAF00006210136 fastq.gz 5.3 GB Report
EGAF00006210137 fastq.gz 5.2 GB Report
EGAF00006210138 fastq.gz 6.1 GB Report
EGAF00006210139 fastq.gz 5.2 GB Report
EGAF00006210140 fastq.gz 6.1 GB Report
EGAF00006210141 fastq.gz 5.3 GB Report
EGAF00006210142 fastq.gz 6.2 GB Report
EGAF00006210143 fastq.gz 5.3 GB Report
EGAF00006210144 fastq.gz 6.2 GB Report
EGAF00006210145 fastq.gz 5.3 GB Report
EGAF00006210146 fastq.gz 6.2 GB Report
EGAF00006210147 fastq.gz 5.3 GB Report
EGAF00006210148 fastq.gz 6.3 GB Report
EGAF00006210149 fastq.gz 5.4 GB Report
EGAF00006210150 fastq.gz 6.3 GB Report
EGAF00006210151 fastq.gz 5.4 GB Report
EGAF00006210152 fastq.gz 6.3 GB Report
EGAF00006210155 fastq.gz 46.8 GB Report
EGAF00006210156 fastq.gz 51.0 GB Report
EGAF00006210157 fastq.gz 46.3 GB Report
EGAF00006210158 fastq.gz 50.9 GB Report
EGAF00006210159 fastq.gz 45.8 GB Report
EGAF00006210160 fastq.gz 50.1 GB Report
EGAF00006210161 fastq.gz 45.8 GB Report
EGAF00006210162 fastq.gz 50.2 GB Report
EGAF00006210163 fastq.gz 46.1 GB Report
EGAF00006210164 fastq.gz 50.6 GB Report
EGAF00006210165 fastq.gz 45.7 GB Report
EGAF00006210166 fastq.gz 50.6 GB Report
EGAF00006210167 fastq.gz 2.8 GB Report
EGAF00006210168 fastq.gz 2.9 GB Report
EGAF00006210169 fastq.gz 7.1 GB Report
EGAF00006210170 fastq.gz 8.6 GB Report
EGAF00006210171 fastq.gz 7.3 GB Report
EGAF00006210172 fastq.gz 8.8 GB Report
EGAF00006210173 fastq.gz 7.5 GB Report
EGAF00006210174 fastq.gz 9.0 GB Report
EGAF00006210175 fastq.gz 7.3 GB Report
EGAF00006210176 fastq.gz 8.9 GB Report
EGAF00006210177 fastq.gz 7.5 GB Report
EGAF00006210178 fastq.gz 9.1 GB Report
EGAF00006210179 fastq.gz 2.9 GB Report
EGAF00006210180 fastq.gz 2.9 GB Report
EGAF00006210181 fastq.gz 8.0 GB Report
EGAF00006210182 fastq.gz 9.6 GB Report
EGAF00006210183 fastq.gz 8.3 GB Report
EGAF00006210184 fastq.gz 9.9 GB Report
EGAF00006210185 fastq.gz 8.5 GB Report
EGAF00006210186 fastq.gz 10.1 GB Report
EGAF00006210187 fastq.gz 8.3 GB Report
EGAF00006210188 fastq.gz 9.9 GB Report
EGAF00006210189 fastq.gz 8.5 GB Report
EGAF00006210190 fastq.gz 10.2 GB Report
EGAF00006210191 fastq.gz 3.2 GB Report
EGAF00006210192 fastq.gz 3.2 GB Report
EGAF00006210193 fastq.gz 8.1 GB Report
EGAF00006210194 fastq.gz 9.4 GB Report
EGAF00006210195 fastq.gz 8.1 GB Report
EGAF00006210196 fastq.gz 9.4 GB Report
EGAF00006210197 fastq.gz 8.2 GB Report
EGAF00006210198 fastq.gz 9.6 GB Report
EGAF00006210199 fastq.gz 8.1 GB Report
EGAF00006210200 fastq.gz 9.4 GB Report
EGAF00006210201 fastq.gz 8.2 GB Report
EGAF00006210202 fastq.gz 9.6 GB Report
EGAF00006210203 fastq.gz 3.2 GB Report
EGAF00006210204 fastq.gz 3.3 GB Report
EGAF00006210205 fastq.gz 7.0 GB Report
EGAF00006210206 fastq.gz 8.3 GB Report
EGAF00006210207 fastq.gz 7.2 GB Report
EGAF00006210208 fastq.gz 8.5 GB Report
EGAF00006210209 fastq.gz 7.3 GB Report
EGAF00006210210 fastq.gz 8.8 GB Report
EGAF00006210211 fastq.gz 7.2 GB Report
EGAF00006210212 fastq.gz 8.6 GB Report
EGAF00006210213 fastq.gz 7.4 GB Report
EGAF00006210214 fastq.gz 8.8 GB Report
EGAF00006210215 fastq.gz 7.9 GB Report
EGAF00006210216 fastq.gz 9.2 GB Report
EGAF00006210217 fastq.gz 8.0 GB Report
EGAF00006210218 fastq.gz 9.3 GB Report
EGAF00006210219 fastq.gz 8.1 GB Report
EGAF00006210220 fastq.gz 9.5 GB Report
EGAF00006210221 fastq.gz 8.0 GB Report
EGAF00006210222 fastq.gz 9.4 GB Report
EGAF00006210223 fastq.gz 8.2 GB Report
EGAF00006210224 fastq.gz 9.6 GB Report
EGAF00006210225 fastq.gz 3.3 GB Report
EGAF00006210226 fastq.gz 3.3 GB Report
EGAF00006210227 fastq.gz 44.2 GB Report
EGAF00006210228 fastq.gz 48.4 GB Report
EGAF00006210229 fastq.gz 45.1 GB Report
EGAF00006210230 fastq.gz 50.0 GB Report
EGAF00006210231 fastq.gz 46.3 GB Report
EGAF00006210232 fastq.gz 51.1 GB Report
EGAF00006210233 fastq.gz 44.3 GB Report
EGAF00006210234 fastq.gz 48.1 GB Report
EGAF00006210235 fastq.gz 41.6 GB Report
EGAF00006210236 fastq.gz 45.1 GB Report
EGAF00006210237 fastq.gz 42.1 GB Report
EGAF00006210238 fastq.gz 46.3 GB Report
EGAF00006210239 fastq.gz 41.9 GB Report
EGAF00006210240 fastq.gz 45.3 GB Report
EGAF00006210241 fastq.gz 42.7 GB Report
EGAF00006210242 fastq.gz 45.9 GB Report
EGAF00006210243 fastq.gz 42.2 GB Report
EGAF00006210244 fastq.gz 45.4 GB Report
EGAF00006210245 fastq.gz 40.0 GB Report
EGAF00006210246 fastq.gz 43.2 GB Report
EGAF00006210247 fastq.gz 40.5 GB Report
EGAF00006210248 fastq.gz 43.5 GB Report
EGAF00006210249 fastq.gz 41.7 GB Report
EGAF00006210250 fastq.gz 44.3 GB Report
EGAF00006210251 fastq.gz 41.6 GB Report
EGAF00006210252 fastq.gz 44.1 GB Report
EGAF00006210253 fastq.gz 41.5 GB Report
EGAF00006210254 fastq.gz 44.7 GB Report
EGAF00006210255 fastq.gz 41.2 GB Report
EGAF00006210256 fastq.gz 44.3 GB Report
EGAF00006210257 fastq.gz 41.4 GB Report
EGAF00006210258 fastq.gz 45.1 GB Report
EGAF00006210259 fastq.gz 42.2 GB Report
EGAF00006210260 fastq.gz 46.1 GB Report
EGAF00006210261 fastq.gz 43.1 GB Report
EGAF00006210262 fastq.gz 46.2 GB Report
EGAF00006210263 fastq.gz 43.2 GB Report
EGAF00006210264 fastq.gz 45.8 GB Report
EGAF00006210265 fastq.gz 43.6 GB Report
EGAF00006210266 fastq.gz 48.6 GB Report
EGAF00006210267 fastq.gz 42.9 GB Report
EGAF00006210268 fastq.gz 46.5 GB Report
EGAF00006210269 fastq.gz 42.6 GB Report
EGAF00006210270 fastq.gz 46.4 GB Report
EGAF00006210271 fastq.gz 44.9 GB Report
EGAF00006210272 fastq.gz 48.6 GB Report
EGAF00006210273 fastq.gz 44.1 GB Report
EGAF00006210274 fastq.gz 47.6 GB Report
EGAF00006210275 fastq.gz 41.9 GB Report
EGAF00006210276 fastq.gz 47.6 GB Report
EGAF00006210277 fastq.gz 43.0 GB Report
EGAF00006210278 fastq.gz 46.5 GB Report
EGAF00006822093 fastq.gz 43.3 GB Report
EGAF00006822094 fastq.gz 50.2 GB Report
EGAF00006822095 fastq.gz 43.7 GB Report
EGAF00006822096 fastq.gz 48.6 GB Report
EGAF00006822097 fastq.gz 43.5 GB Report
EGAF00006822098 fastq.gz 45.4 GB Report
EGAF00006822099 fastq.gz 47.0 GB Report
EGAF00006822100 fastq.gz 48.7 GB Report
EGAF00006822101 fastq.gz 43.9 GB Report
EGAF00006822102 fastq.gz 45.4 GB Report
EGAF00006822103 fastq.gz 48.9 GB Report
EGAF00006822104 fastq.gz 51.5 GB Report
EGAF00006822105 fastq.gz 46.0 GB Report
EGAF00006822106 fastq.gz 47.6 GB Report
EGAF00006822107 fastq.gz 44.6 GB Report
EGAF00006822108 fastq.gz 46.3 GB Report
EGAF00006822109 fastq.gz 44.7 GB Report
EGAF00006822110 fastq.gz 45.9 GB Report
EGAF00006822111 fastq.gz 44.9 GB Report
EGAF00006822112 fastq.gz 46.3 GB Report
EGAF00006822113 fastq.gz 43.7 GB Report
EGAF00006822114 fastq.gz 45.4 GB Report
EGAF00006822115 fastq.gz 45.1 GB Report
EGAF00006822116 fastq.gz 46.4 GB Report
EGAF00006822117 fastq.gz 42.0 GB Report
EGAF00006822118 fastq.gz 45.8 GB Report
EGAF00006822119 fastq.gz 43.5 GB Report
EGAF00006822120 fastq.gz 47.1 GB Report
EGAF00006822121 fastq.gz 44.0 GB Report
EGAF00006822122 fastq.gz 47.4 GB Report
EGAF00006822123 fastq.gz 43.6 GB Report
EGAF00006822124 fastq.gz 46.6 GB Report
EGAF00006822125 fastq.gz 45.7 GB Report
EGAF00006822126 fastq.gz 49.2 GB Report
EGAF00006822127 fastq.gz 43.1 GB Report
EGAF00006822128 fastq.gz 47.4 GB Report
EGAF00006822129 fastq.gz 42.8 GB Report
EGAF00006822130 fastq.gz 47.4 GB Report
EGAF00006822131 fastq.gz 44.3 GB Report
EGAF00006822132 fastq.gz 48.1 GB Report
EGAF00006822133 fastq.gz 43.7 GB Report
EGAF00006822134 fastq.gz 47.0 GB Report
EGAF00006822137 fastq.gz 44.5 GB Report
EGAF00006822138 fastq.gz 48.0 GB Report
EGAF00006822139 fastq.gz 45.8 GB Report
EGAF00006822140 fastq.gz 47.5 GB Report
EGAF00006822141 fastq.gz 43.7 GB Report
EGAF00006822142 fastq.gz 47.4 GB Report
EGAF00006822143 fastq.gz 43.7 GB Report
EGAF00006822144 fastq.gz 46.5 GB Report
EGAF00006822147 fastq.gz 45.0 GB Report
EGAF00006822148 fastq.gz 50.2 GB Report
EGAF00006822149 fastq.gz 44.5 GB Report
EGAF00006822150 fastq.gz 48.3 GB Report
EGAF00006822151 fastq.gz 43.2 GB Report
EGAF00006822152 fastq.gz 47.3 GB Report
EGAF00006822153 fastq.gz 42.6 GB Report
EGAF00006822154 fastq.gz 46.0 GB Report
EGAF00006822155 fastq.gz 43.6 GB Report
EGAF00006822156 fastq.gz 47.8 GB Report
EGAF00006822157 fastq.gz 44.0 GB Report
EGAF00006822158 fastq.gz 48.1 GB Report
EGAF00006822159 fastq.gz 45.2 GB Report
EGAF00006822160 fastq.gz 48.0 GB Report
EGAF00006822161 fastq.gz 45.1 GB Report
EGAF00006822162 fastq.gz 48.5 GB Report
EGAF00006822163 fastq.gz 45.3 GB Report
EGAF00006822164 fastq.gz 49.1 GB Report
EGAF00006822165 fastq.gz 45.6 GB Report
EGAF00006822166 fastq.gz 49.3 GB Report
EGAF00008571467 fastq.gz 42.4 GB Report
EGAF00008571468 fastq.gz 48.7 GB Report
EGAF00008571469 fastq.gz 37.4 GB Report
EGAF00008571470 fastq.gz 48.5 GB Report
286 Files (7.6 TB)