Whole-exome sequencing data from breast cancer recurrence, endometrial cancer, and colon tumor samples harboring a rare germline BARD1 variant
This dataset comprises whole-exome sequencing data from tumor and matched blood samples of a patient with breast cancer recurrence and endometrial cancer carrying a germline BARD1 p.(Gly753Val) variant, as well as from the colon tumor of the proband's father
- 16/04/2026
- 6 samples
- DAC: EGAC50000000954
- Technology: Illumina NovaSeq 6000
DUO:0000042 version: 2021-02-23
general research use
This data use permission indicates that use is allowed for general research use for any research purpose.
Cancer Predisposition Genetic NGS Data Access Policy (Foulkes lab)
Access to these controlled human sequencing and phenotype data is restricted to qualified researchers with local REB approval and an institutional signature on a Data Access Agreement. Permitted uses include research on cancer genetics-related questions, including but not limited to identification of risk alleles, study of risk factors, genetic modifiers, penetrance, phenotype-genotype correlations (to be defined in the Data Access Agreement). For-profit or commercial use and re-identification are prohibited. Data must not be redistributed. Publications must acknowledge the data source.
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 |
|---|---|---|
| EGAS50000001682 | Exome Sequencing |
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
i
|
|---|---|---|---|---|
| EGAF50000691272 | vcf | 191.1 kB |
|
|
| EGAF50000691273 | vcf | 40.3 MB |
|
|
| EGAF50000691274 | vcf | 32.4 MB |
|
|
| EGAF50000691275 | vcf | 149.3 kB |
|
|
| EGAF50000691276 | bai | 6.8 MB |
|
|
| EGAF50000691277 | bam | 8.0 GB |
|
|
| EGAF50000691278 | bai | 7.2 MB |
|
|
| EGAF50000691279 | bam | 7.1 GB |
|
|
| EGAF50000691280 | vcf | 186.4 kB |
|
|
| EGAF50000691281 | vcf | 231.5 kB |
|
|
| EGAF50000691282 | bai | 6.6 MB |
|
|
| EGAF50000691283 | bam | 7.3 GB |
|
|
| EGAF50000691284 | bai | 6.6 MB |
|
|
| EGAF50000691285 | bam | 6.2 GB |
|
|
| EGAF50000691286 | bai | 6.6 MB |
|
|
| EGAF50000691287 | bam | 7.6 GB |
|
|
| EGAF50000691288 | bai | 6.7 MB |
|
|
| EGAF50000691289 | bam | 6.4 GB |
|
|
| 18 Files (42.8 GB) | ||||