Article
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Annals of oncology : official journal of the European Society for Medical Oncology - 1 Jul 2019
Nones K, Johnson J, Newell F, Patch A M, Thorne H, Kazakoff S H, de Luca X M, Parsons M T, Ferguson K, Reid L E, McCart Reed A E, Srihari S, Lakis V, Davidson A L, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C, Beesley J, Harris J M, Barnes D, Degasperi A, Ragan M A, Spurdle A B, Khanna K K, Lakhani S R, Pearson J V, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson P T
Abstract excerpt
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...
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