BCCRC Breast Cancer WGS (brca_bccrc)

Overview

The BCCRC cohort is a whole-genome and whole-exome sequencing study of primary triple-negative breast cancers (TNBC) generated at the BC Cancer Research Centre. It encompasses 104 treatment-naive primary TNBC cases with Affymetrix SNP 6.0 copy-number profiling, RNA-seq on 80 cases, and WGS/WES on 65 cases. Somatic mutations were deep-resequenced (median >20,000x) for 2,414 somatic SNVs. A validation cohort of 159 additional breast cancers (82 ER+, 77 ER-) with targeted exon resequencing of 29 genes was also included. Data are deposited at the European Genome-phenome Archive (EGAS00001000132).

Composition

• 104 primary TNBC cases (treatment-naive)
• Cancer type: BRCA
• WGS/WES on 65 cases; RNA-seq on 80 cases; Affymetrix SNP 6.0 on 104 cases
• Validation cohort: 159 additional breast cancers (82 ER+, 77 ER-)

Assays / panels (linked)

• Whole-genome sequencing
• Whole-exome sequencing
• RNA sequencing
• Affymetrix SNP 6.0

Papers using this cohort

• PMID:22495314

Notable findings derived from this cohort

• TP53 was mutated in 62% of basal TNBC and 43% of non-basal TNBC cases; PIK3CA mutated in 10.2% (7/65), USH2A in 9.2% (6/65), MYO3A in 9.2% (6/65) PMID:22495314
• Somatic mutation abundance varies continuously across TNBC; ~36% of validated somatic SNVs are expressed in matched RNA-seq, consistent with subclonal heterogeneity PMID:22495314
• ~20% of cases harbor potentially actionable aberrations including BRAF V600E, high-level EGFR amplifications, and ERBB2/ERBB3 mutations PMID:22495314
• Structural rearrangements extensively characterized by WGS across the 65-tumor subset PMID:22495314

Sources

• PMID:22495314

This page was processed by entity-page-writer on 2026-05-06.