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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

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

Publications	Citations
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers. Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid LE, McCart Reed AE, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Australian Breast Cancer Tissue Bank (ABCTB), Brisbane Breast Bank (BBB), Beesley J, Harris JM, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT. Ann Oncol 30: 2019 1071-1079	47

Publications

Citations

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid LE, McCart Reed AE, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Australian Breast Cancer Tissue Bank (ABCTB), Brisbane Breast Bank (BBB), Beesley J, Harris JM, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT. Ann Oncol 30: 2019 1071-1079