Journal article

Somatic mutation, copy number and transcriptomic profiles of primary and matched metastatic estrogen receptor-positive breast cancers

D Fumagalli, TR Wilson, R Salgado, X Lu, J Yu, C O'Brien, K Walter, LY Huw, C Criscitiello, I Laios, V Jose, DN Brown, F Rothé, M Maetens, D Zardavas, P Savas, D Larsimont, MJ Piccart-Gebhart, S Michiels, MR Lackner Show all

Annals of Oncology | OXFORD UNIV PRESS | Published : 2016

Abstract

Background: Estrogen receptor-positive (ER+) breast cancers (BCs) constitute the most frequent BC subtype. The molecular landscape of ER+ relapsed disease is not well characterized. In this study, we aimed to describe the genomic evolution between primary (P) and matched metastatic (M) ER+ BCs after failure of adjuvant therapy. Materials and methods: A total of 182 ER+ metastatic BC patients with long-term follow-up were identified from a single institution. P tumor tissue was available for all patients, with 88 having matched M material. According to the availability of tumor material, samples were characterized using a 120 mutational hotspot qPCR, a 29 gene copy number aberrations (CNA) an..

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