Research on the Heterogeneity of Taiwanese Breast Cancer Patients by Next Generation Sequencing (NGS) Tools

Study Overview
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Brief Summary
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The objectives of this study are: To determine the difference in genetic profiling of subjects with breast cancer recurrence To determine the comprehensive genetic profiling of subjects with late stage breast cancer To determine the potential biomarkers for early detection and prognosis for breast cancer To determine the genetic profiling of immune system in different subtypes of breast cancer By integrating and analyzing the data generated using the methods of NGS, these information can be used for: Understanding the genetic profiling of different subtypes of breast cancer in Taiwan Assessing the efficacy of different treatments in breast cancer subjects Defining the molecular risk factors and predicting the potential risk of breast cancer recurrence Assessing the immune repertoire and the potential effects of immunotherapy in breast cancer subjects Developing new strategies in treating patients with triple negative or late stage of breast cancer

Official Title
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Comprehensive Precision Medicine Research on the Heterogeneity of Taiwanese Breast Cancer Patients by Next Generation Sequencing (NGS) Tools

Conditions
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Next Generation Sequencing (NGS), Breast Cancer

Intervention / Treatment
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* Procedure: Diagnostic stage or the Clinical outcome


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Female subjects aged over 20 years old Subject with confirmed diagnosis of primary invasive breast cancer and is planning to receive treatments for breast cancer. However, subjects with breast cancer recurrence at screening will be enrolled if meet both the following conditions: Subjects had received surgery for primary breast cancer within 3 years prior to screening [i.e. recurrence within 3 years after surgery (mastectomy or BCS)]; Subjects diagnosed with stage IV breast cancer beyond 3 years after surgery (mastectomy or BCS) or who had received or are currently receiving treatments for breast cancer. And subjects with primary tumor FFPE tissues available and pass the RNA quality check. Eastern Cooperative Oncology Group (ECOG) Performance score ≤ 3 Life expectancy ≥ 3 months Subject agrees to provide the written informed consent. If a subject has breast cancer recurrence within 3 years prior to screening, she will be eligible if she agrees to provide the paired FFPE tissues (primary and recurrent tumors) Exclusion Criteria: Subjects will be excluded if they had primary cancer other than breast cancer within 5 years prior to screening

Ages Eligible for Study
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Minimum Age: 20 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Group 1<br>Group 1 [(A) subjects who are planning to receive surgery (mastectomy or BCS) as the first-line treatment for BC and followed by adjuvant therapy, or (B) subjects with BC recurrence at screening, who had received surgery for primary BC within 3 years prior to screening, and with primary tumor FFPE tissues available] | Procedure: Diagnostic stage or the Clinical outcome<br>* After enrollment, individual subject will be assigned into one of the four groups according to the medical management received, the diagnostic stage of breast cancer (BC), or the clinical outcome of BC at enrollment.<br>|
| Group 2<br>subjects who are planning to receive neoadjuvant therapy as the first-line treatment for BC and followed by surgery | Procedure: Diagnostic stage or the Clinical outcome<br>* After enrollment, individual subject will be assigned into one of the four groups according to the medical management received, the diagnostic stage of breast cancer (BC), or the clinical outcome of BC at enrollment.<br>|
| Group 3<br>Group 3-1 (subjects diagnosed with de novo and treatment naïve stage IV BC); or Group 3-2 [(A) stage IV subjects with BC recurrence beyond 3 years after surgery (mastectomy or BCS) or stage IV subjects who had received or are currently receiving treatments for BC]. | Procedure: Diagnostic stage or the Clinical outcome<br>* After enrollment, individual subject will be assigned into one of the four groups according to the medical management received, the diagnostic stage of breast cancer (BC), or the clinical outcome of BC at enrollment.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The rate of genomic alteration | Discovery of comprehensive genetic profiles including copy number variation and single nucleotide polymorphism in group 1, 2 and 3 subjects. Discovery of genetic mutations of T cell receptor | Aug.2026 | 
| Clinical outcome | Breast cancer recurrence, overall survival and recurrence-free survival | Aug.2026 |