Study

Whole genome sequencing of tumour and matched normal from patients with family history of breast cancer

Study ID Alternative Stable ID Type
EGAS00001003305 Other

Study Description

Analysis of whole genome sequencing of tumour and matched normal from familial breast cancer patients who had previously undergone clinical germline testing for variation in the BRCA1 and BRCA2 genes. The patients were either carriers of BRCA1 or BRCA2 germline pathogenic variants or non-carriers high-risk individuals (non-BRCA1/2). Somatic mutational signatures were used to study tumour aetiology of these individuals.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001004494
Illumina HiSeqXTen platform sequencing data of whole genome libraries prepared from 156 matched tumour-normal samples from 78 donors
156

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