Breast Cancer — Sanger WES (brca_sanger)

Overview

A cohort of 100 primary breast cancers (79 ER+, 21 ER-) with matched normal DNA assembled by the Wellcome Trust Sanger Institute. Whole-exome sequencing covered 21,416 protein-coding genes and 1,664 microRNAs. Copy-number analysis used Affymetrix SNP 6.0 with ASCAT v2.1. Follow-up validation sequencing extended select findings to an additional 250 breast cancers.

Composition

• 100 primary breast tumors with matched normal blood DNA.
• 79 ER-positive, 21 ER-negative cases.
• Cancer type: BRCA.
• Key clinical fields: ER status, mitosis score, tubule score, age at diagnosis.

Assays / panels (linked)

• whole-exome-seq — 21,416 protein-coding genes + 1,664 microRNA genes.
• affymetrix-snp6 — copy-number analysis with ASCAT v2.1.

Papers using this cohort

• PMID:22722201 — Landscape of somatic mutations in breast cancer (Stephens et al., 2012).

Notable findings derived from this cohort

• Driver mutations in ~40 cancer genes; 7 genes mutated in >10% of cases: TP53, PIK3CA, ERBB2, MYC, FGFR1, GATA3, CCND1 PMID:22722201.
• Nine novel cancer genes established: AKT2, ARID1B, CASP8, CDKN1B, MAP3K1, MAP3K13, NCOR1, SMARCD1, TBX3 PMID:22722201.
• 73 different combinations of mutated cancer genes across 100 tumors; most tumors showed a unique driver combination PMID:22722201.
• 1,712 homozygous deletions and 1,751 amplification events detected PMID:22722201.

Sources

• PMID:22722201

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