BRCA1 secondary splice-site mutations

BRCA1 splice isoforms d11 and d11q can contribute to PARP inhibitor (PARPi) resistance by splicing-out mutation-containing exons, producing truncated, partially-functional proteins. However, the clinical impact and underlying drivers of BRCA1 exon skipping remain undetermined. We analyzed nine ovarian and breast cancer patient derived xenografts (PDX) with BRCA1 exon 11 frameshift mutations for splice isoform expression and therapy response.

Type: Cancer Genomics
Archiver: European Genome-Phenome Archive (EGA)

5 Datasets

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Dataset ID	Description	Technology	Samples
EGAD50000000032	RNAseq for #1049, #111, #1217, #206, COV362	Illumina NovaSeq 6000	5
EGAD50000000033	WGS of tumour PDX and matched patient blood	Illumina NovaSeq 6000	5
EGAD50000000034	Exome sequencing of PDX and matched patient blood	NextSeq 500	4
EGAD50000000035	BROCA panel sequencing using the BROCA-HR v8 and BROCA-GO v1 versions of the gene panel	Illumina HiSeq 2500 Illumina NovaSeq 6000	15
EGAD50000000189	exon 11 mutated UWB1.289 and COV362 cell lines	Illumina NovaSeq 6000	2