Multi-omic profiling of simultaneous ductal carcinoma in situ and invasive breast cancer.

ABSTRACT:

Purpose

The progression of ductal carcinoma in situ (DCIS) to invasive breast carcinoma (IBC) in humans is highly variable. To better understand the relationship between them, we performed a multi-omic characterization of co-occurring DCIS and IBC lesions in a cohort of individuals.

Methods

Formalin-fixed paraffin-embedded tissue samples from 50 patients with co-occurring DCIS and IBC lesions were subjected to DNA-seq and whole transcriptome RNA-seq. Paired DCIS and IBC multi-omics profiles were then interrogated for DNA mutations, gene expression profiles and pathway analysis.

Results

Most small variants and copy number variations were shared between co-occurring DCIS and IBC lesions, with IBC exhibiting on average a higher degree of additional mutations. However, 36

SUBMITTER: Kaplan HG 

PROVIDER: S-EPMC11101558 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature