Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women

Cancer Science
Charny ParkEun Sook Lee

Abstract

Very young breast cancer patients are more common in Asian countries than Western countries and are thought to have worse prognosis than older patients. The aim of the current study was to identify molecular characteristics of young patients with estrogen receptor (ER)-positive breast cancer by analyzing mutations and copy number variants (CNV), and by applying expression profiling. The whole exome and transcriptome of 47 Korean young breast cancer (KYBR) patients (age <35) were analyzed. Genomic profiles were constructed using mutations, CNV and differential gene expression from sequencing data. Pathway analyses were also performed using gene sets to identify biological processes. Our data were compared with young ER+ breast cancer patients in The Cancer Genome Atlas (TCGA) dataset. TP53, PIK3CA and GATA3 were highly recurrent somatic mutation genes. APOBEC-associated mutation signature was more frequent in KYBR compared with young TCGA patients. Integrative profiling was used to classify our patients into 3 subgroups based on molecular characteristics. Group A showed luminal A-like subtype and IGF1R signal dysregulation. Luminal B patients were classified into groups B and C, which showed chromosomal instability and enrichmen...Continue Reading

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Citations

Mar 27, 2020·Medical Sciences : Open Access Journal·Ugo TestaElvira Pelosi

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Methods Mentioned

BETA
proteomic profiling
exome sequencing
surgical resection
genotyping
Illumina sequencing
BRIP

Software Mentioned

BWA
Trimmomatic
fusion
GSEA )
EXCAVATOR2
Mapsplice
CODEX
R packages
R package “ GSVA ”
ENSEMBL

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