Genomic, Transcriptomic, and Proteomic Profiling of Metastatic Breast Cancer.

ABSTRACT:

Purpose

Metastatic breast cancer (MBC) is not curable and there is a growing interest in personalized therapy options. Here we report molecular profiling of MBC focusing on molecular evolution in actionable alterations.

Experimental design

Sixty-two patients with MBC were included. An analysis of DNA, RNA, and functional proteomics was done, and matched primary and metastatic tumors were compared when feasible.

Results

Targeted exome sequencing of 41 tumors identified common alterations in TP53 (21; 51%) and PIK3CA (20; 49%), as well as alterations in several emerging biomarkers such as NF1 mutations/deletions (6; 15%), PTEN mutations (4; 10%), and ARID1A mutations/deletions (6; 15%). Among 27 hormone receptor-positive patients, we i

SUBMITTER: Akcakanat A 

PROVIDER: S-EPMC8172429 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature