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.

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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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