Chromoanasynthesis is a common mechanism that leads to ERBB2 amplifications in a cohort of early stage HER2+ breast cancer samples

BMC Cancer
George VasmatzisE Aubrey Thompson

Abstract

HER2 positive (HER2+) breast cancers involve chromosomal structural alterations that act as oncogenic driver events. We interrogated the genomic structure of 18 clinically-defined HER2+ breast tumors through integrated analysis of whole genome and transcriptome sequencing, coupled with clinical information. ERBB2 overexpression in 15 of these tumors was associated with ERBB2 amplification due to chromoanasynthesis with six of them containing single events and the other nine exhibiting multiple events. Two of the more complex cases had adverse clinical outcomes. Chromosomes 8 was commonly involved in the same chromoanasynthesis with 17. In ten cases where chromosome 8 was involved we observed NRG1 fusions (two cases), NRG1 amplification (one case), FGFR1 amplification and ADAM32 or ADAM5 fusions. ERBB3 over-expression was associated with NRG1 fusions and EGFR and ERBB3 expressions were anti-correlated. Of the remaining three cases, one had a small duplication fully encompassing ERBB2 and was accompanied with a pathogenic mutation. Chromoanasynthesis involving chromosome 17 can lead to ERBB2 amplifications in HER2+ breast cancer. However, additional large genomic alterations contribute to a high level of genomic complexity, gener...Continue Reading

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Citations

Nov 11, 2020·Epigenetics & Chromatin·Wen-Jun WangJiu-Wei Cui
Sep 26, 2020·Cancer Research·Michiel BolkesteinAurélie Ernst
Apr 4, 2021·Cancers·James A Shapiro
Jul 17, 2021·Breast Cancer Research : BCR·Peipei LuRobert West
Aug 9, 2021·Progress in Biophysics and Molecular Biology·Krishna DasariJeffrey P Townsend
Oct 10, 2021·NPJ Breast Cancer·Sara Alsterlind HurvitzDennis J Slamon

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Methods Mentioned

BETA
RNAseq

Software Mentioned

NanoString 3D Biology [UNK]
MPseq
SVAtools
Gnome U plot
RSeq
MAP
Subread
3D Biology
edgeR
RNAseq

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