Molecular Profiling in Young (<50 Years of Age) Patients With Metastatic Breast Cancer

Not Applicable

• Conditions: Breast Cancer
• Interventions: Genetic: FoundationOne CDx

• Registration Number: NCT04098640
• Lead Sponsor: Seoul National University Hospital

Brief Summary

Breast cancer is the most common cancer in women worldwide, especially in developed countries. In developing countries, including South Korea, the incidence and mortality rate of breast cancer is rapidly increasing. One of the most important characteristics of breast cancer in South Korea, as well as in other Asian countries, is the younger onset of disease compared to Western.

Medical treatment of breast cancer is evolving rapidly, incorporating immune checkpoint blockades and molecularly targeted agents. However, data and knowledge are still limited in terms of molecular characteristics of Asian breast cancer, compared to that of Western countries, and this remains a major hurdle for drug development in Asian breast cancer patients.

The primary objective of this study is to elucidate the genetic characteristic of young (\<50 years of age) Korean patients with metastatic breast cancer using FoundationOne CDx.

Detailed Description

Secondary Objective(s):

1. To evaluate the prognostic and predictive role of tumor mutation burden.

2. To reveal the correlation between genetic characteristics and immunohistochemical expression of selected proteins (including DNA damage repair (DDR) molecules and various immune modulating molecules including PD-L1, PD-1, IDO, and OX40).

3. Compare molecular characteristics of breast cancer according to age groups (\<35 years vs. 35-50 years).

4. To offer genomic profiling guided therapy to patients as early as possible (preferably, 1st- or 2nd-line of treatment). In addition, to explore how genomic profiling guided therapy could improve patient outcome as an ad-hoc if sufficient number of patients can be followed up (compared to historic data).

Study Timeline

• Study First Submitted: 2019-09-19
• Study First Submitted QC: 2019-09-19
• Study Start: 2019-09-23
• Study First Posted: 2019-09-23
• Status Verified: 2024-12
• Last Update Submitted: 2025-04-14
• Last Update Posted: 2025-04-17
• Primary Completion: 2025-12-31
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: Female
• Target Recruitment: 200

Inclusion Criteria

• Patients between 19 - 50 years of age on the day of signing informed consent.
• Able to provide written informed consent for voluntary participation in the trial.
• With metastatic breast cancer
• Willing to provide biopsies from the primary tumor or lymph nodes at screening to the central laboratory. (with at least 10 unstained slides and 1 H&E slide)

Exclusion Criteria

• Has known psychiatric or substance abuse disorders that would interfere with cooperation with the requirements of the study.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
FMI	FoundationOne CDx	FoundationOne CDx will be performed using archival tumor tissue

Primary Outcome Measures

Name	Time	Method
Genetic characteristic of young (<50 years of age) Korean patients with metastatic breast cancer.	After the end of patient enrollment	Genetic characteristics will be evaluated using FoundationOne CDx.

Secondary Outcome Measures

Name	Time	Method
Evaluate the prognostic and predictive role of tumor mutation burden	After the end of patient enrollment	Tumor mutation burden will be analysed using FoundationOne CDx.
Reveal the correlation between genetic characteristics and immunohistochemical expression of selected proteins.	After the end of patient enrollment	FoundationOne CDx results and immunohistochemical expression will be analysed.
Compare molecular characteristics of breast cancer according to age groups.	After the end of patient enrollment	Genetic characteristics will be analysed according to age groups.
To offer genomic profiling guided therapy to patients To explore how genomic profiling guided therapy could improve patient outcome as an ad-hoc if sufficient number of patients can be followed up (compared to historic data).	After the end of patient enrollment	The result of FoundationOne CDx will be used in patient treatment

Trial Locations

Locations (1)

Seoul National University Hospital; 🇰🇷 Seoul, Korea, Republic of