Study
Elucidating the genomic architecture of Asian EGFR-mutant lung adenocarcinoma through multi-region exome sequencing
| Study ID | Alternative Stable ID | Type |
|---|---|---|
| EGAS00001001736 | Other |
Study Description
EGFR-mutant lung adenocarcinomas (LUAD) display diverse clinical trajectories and are characterized by rapid but short-lived responses to EGFR tyrosine kinase inhibitors (TKIs). Through sequencing of 79 spatially distinct regions from 16 early stage tumors, we show that despite low mutation burdens, EGFR-mutant Asian LUADs unexpectedly exhibit a complex genomic landscape with frequent and early whole genome doubling, aneuploidy and high clonal diversity. Multiple truncal alterations, including TP53 mutations and loss of CDKN2A and RB1, converge on cell cycle dysregulation, with late sector-specific high amplitude amplifications and deletions that potentially beget drug resistant clones. We highlight the association between genomic architecture and clinical phenotypes, such as co-occurring truncal drivers and primary TKI resistance. Through comparative analysis with published smoking-related LUAD, we postulate that the high intra-tumor heterogeneity observed in Asian EGFR-mutant LUAD may be contributed by an early dominant driver, genomic instability and low background mutation rates.
Study Datasets 6 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001001978 |
This dataset contains FASTQ files for multi-region exome-sequencing of EGFR-mutant lung adenocarcinomas from Asian patient. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors. Multiple runs for each sample, and 368 fastq in total. Please refer to the sample-ID from filename for merging.
|
Illumina HiSeq 2000 | 95 |
| EGAD00001001979 |
This dataset contains BAM file for multi-region exome-sequencing of EGFR-mutant lung adenocarcinomas from Asian patient. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors.
|
Illumina HiSeq 2000 | 95 |
| EGAD00001001980 |
This dataset contains BAM files of targeted Amplicon deep-sequencing data, for validation of the mutations found in WES. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors.
|
Illumina HiSeq 2500 | 95 |
| EGAD00001001981 |
This dataset contains FASTQ files of targeted Amplicon deep-sequencing data, for validation of the mutations found in WES. There are 16 patients and 95 samples in total, including 16 controls and 79 tumors. 140 fastq in total, multiple runs for some of the samples. Please refer to the sample-ID from filename for merging.
|
Illumina HiSeq 2500 | 95 |
| EGAD00010001176 |
This dataset contains 15 control SNP-array dataset from 15 EGFR mutant lung adenocarcinoma patients.
|
Illumina | 15 |
| EGAD00010001177 |
This dataset contains 61 tumors SNP-array dataset from 15 EGFR mutant lung adenocarcinoma patients.
|
Illumina | 61 |
Who archives the data?
Publications
Citations
Retrieving...
Retrieving...
