Study
MED12L Gene Alterations Define Aggressive BRCA2-Mutant Prostate Cancers
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001001615 | Other |
Study Description
Germline mutation of BRCA2 increases the lifetime risk of developing prostate cancer (PCa) by over 700%. BRCA2-mutant PCa have poorer prognosis than sporadic PCa, with rapid development of metastatic, castrate-resistant prostate cancer (mCRPC) and 5-year cancer-specific survival rates of ~50-60%1-4. Despite this, unique genomic driver events that explain the aggressiveness of localized BRCA2-mutant PCa are lacking. We used whole-genome sequencing to fully characterize 14 BRCA2-mutant PCa and demonstrate that BRCA2-mutant PCa is associated with increased genetic instability and a mutually exclusive mutational burden when compared to sporadic PCa. Importantly, BRCA2-mutated cancers are defined by unique copy number gains and hypomethylation events, including alterations in the MED12L/MED12 axis, which are found solely in mCRPC and are enriched in PCa tumours harbouring aggressive intraductal carcinoma (IDC-P) pathologic sub-types. Our findings begin to explain the clinical entity of BRCA2-mutated PCa as these tumours have a unique and aggressive genotype de novo, associated with IDC-P ... (Show More)
Study Datasets 5 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 |
---|---|---|---|
EGAD00001002739 |
Aligned sequence data from 14 Prostate cancer samples with BRCA2 mutations
|
49 | |
EGAD00001003752 |
single nucleotide variant calls from somatic sniper, vcf format
|
34 | |
EGAD00001003753 |
single nucleotide variant calls from somatic sniper, vcf format. input for subclonal reconstruction
|
20 | |
EGAD00001003754 |
structural variant calls from Delly, vcf format
|
37 | |
EGAD00010001196 |
Raw Array data from the CPCGene BRCA study
|
Affymetrix OncoScan FFPE Express | 48 |
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