ESR1 Mutations in Circulating Plasma Tumor DNA from Metastatic Breast Cancer Patients.

ABSTRACT:

Purpose

Mutations in the estrogen receptor (ER)α gene, ESR1, have been identified in breast cancer metastases after progression on endocrine therapies. Because of limitations of metastatic biopsies, the reported frequency of ESR1 mutations may be underestimated. Here, we show a high frequency of ESR1 mutations using circulating plasma tumor DNA (ptDNA) from patients with metastatic breast cancer.

Experimental design

We retrospectively obtained plasma samples from eight patients with known ESR1 mutations and three patients with wild-type ESR1 identified by next-generation sequencing (NGS) of biopsied metastatic tissues. Three common ESR1 mutations were queried for using droplet digital PCR (ddPCR). In a prospective cohort, metastatic tissue and plasma were collected contempor

SUBMITTER: Chu D 

PROVIDER: S-EPMC4993201 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature