Journal article
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers
K Nones, J Johnson, F Newell, AM Patch, H Thorne, SH Kazakoff, XM de Luca, MT Parsons, K Ferguson, LE Reid, AE McCart Reed, S Srihari, V Lakis, AL Davidson, P Mukhopadhyay, O Holmes, Q Xu, S Wood, C Leonard, J Beesley Show all
Annals of Oncology | Elsevier | Published : 2019
Open access
Abstract
Background: Whole-genome sequencing (WGS) is a powerful method for revealing the diversity and complexity of the somatic mutation burden of tumours. Here, we investigated the utility of tumour and matched germline WGS for understanding aetiology and treatment opportunities for high-risk individuals with familial breast cancer. Patients and methods: We carried out WGS on 78 paired germline and tumour DNA samples from individuals carrying pathogenic variants in BRCA1 (n = 26) or BRCA2 (n = 22) or from non-carriers (non-BRCA1/2; n = 30). Results: Matched germline/tumour WGS and somatic mutational signature analysis revealed patients with unreported, dual pathogenic germline variants in cancer r..
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Grants
Awarded by NHMRC Australia
Awarded by NHMRC Program
Awarded by NHMRC senior research fellowships
Funding Acknowledgements
The work was funded by NHMRC Australia project grants (APP1080985 and APP1028742) and supported by NHMRC Program grants (APP1017028 and APP1113867). ALD is supported by an Australian Government Research Training Program (RTP) Scholarship. KN is supported by Keith Boden fellowship. NW and ABS are supported by NHMRC senior research fellowships (APP1139071 and APP1061779).