Targeted sequencing of breast cancers with germline BRCA1/2 mutations

Study ID Alternative Stable ID Type
EGAS00001004182 Other

Study Description

Breast cancer is the most prevalent cancer in women, where a germline predisposition plays a substantial role. However, the effects of pathogenic germline variants on accompanying breast cancers have not been fully characterized in terms of somatic alterations. We obtained tumor samples from 30 patients with pathogenic germline variants in BRCA2 (n = 25) and BRCA1 (n = 5), as well as an additional 30 patients without pathogenic germline mutations, in which somatic mutations in common breast cancer drivers and CNAs were analyzed using targeted panel sequencing.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
This dataset contains targeted sequencing of breast tumors with germline BRCA1/2 mutations (n = 30) and those without. Breast cancer related genes (n = 115) have been captured and sequenced.
Illumina HiSeq 2500 60

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