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

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.

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Dataset ID Description Technology Samples
EGAD00001004494 156
Publications Citations
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Ann Oncol 30: 2019 1071-1079
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