Whole Genome Sequencing in Breast Cancer (WGS SIT)

This study aims to conduct whole genome sequencing in breast cancer patients to elucidate individual genetic characteristics and their correlation with breast cancer subtypes. The primary objective is to establish new treatment guidelines aligned with the paradigm shift in precision medicine. The study will include both prospective and retrospective cohorts totaling 1200 participants. Prospective participants must provide consent and be eligible for tissue collection, while retrospective participants must have histologically confirmed breast cancer and available tissue samples from Samsung Medical Center Biobank. The study period spans 3 years for subject enrollment and 5 years for follow-up observations, with an expected completion date of December 31, 2030.

Study Overview

• Status: Recruiting
• Conditions: Breast Cancer
• Intervention / Treatment: Other: no intervention needed

Detailed Description

Breast cancer is a complex disease with diverse genetic characteristics, necessitating personalized treatment approaches. This study proposes to conduct whole genome sequencing (WGS) to comprehensively analyze the genetic landscape of breast cancer patients, aiming to identify novel genetic alterations and their implications for disease classification and treatment response.

The primary objective of this research is to elucidate the individual genetic profiles of breast cancer patients through WGS and subsequent analysis. By characterizing the genomic alterations unique to each patient, this study seeks to refine breast cancer subtyping, facilitate the discovery of innovative treatment strategies, and optimize therapeutic decision-making.

This multicenter study will enroll a total of 1200 participants, comprising both prospective and retrospective cohorts. Prospective participants will be recruited based on specific inclusion criteria, including age, consent for tissue collection, and histologically confirmed breast cancer diagnosis. Retrospective participants will be identified from existing breast cancer tissue samples collected between 2012 and 2023 and stored in the Samsung Medical Center Biobank.

The study will involve comprehensive data collection, including clinical, pathological, and genomic information. Participants will undergo WGS analysis of tumor samples, and the resulting genomic data will be correlated with clinical outcomes to identify potential prognostic markers and therapeutic targets.

The research will be conducted under the supervision of Professor Yeonhee Park, an expert in hematology-oncology at Samsung Medical Center, in collaboration with Inocras Inc, the study sponsor. The study period will span three years for subject enrollment, followed by a five-year follow-up observation period. The expected completion date for the study is December 31, 2030.

This study holds the potential to significantly advance our understanding of the molecular basis of breast cancer and pave the way for the development of personalized treatment approaches tailored to individual patients' genetic profiles.

• Study Type: Observational
• Enrollment (Estimated): 1200

Contacts and Locations

• Study Contact: Name: JeongSeok Lee, MD; Phone Number: 82-2-587-0109; Email: jslee@inocras.com
• Study Contact Backup: Name: HyunJung Lee; Phone Number: 82-2-587-0109; Email: hjlee@inocras.com

Study Locations

• Korea, Republic of
  • Seoul, Korea, Republic of
    • Recruiting
    • Samsung Medical Center
    • Contact: Yeon Hee Park, MD
    • Principal Investigator: Yeon Hee Park, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

Prospective study : 500 Retrospective study : 700

Description

[Prospective study]

Inclusion Criteria:

• Patients who have consented to both the patient consent form and the consent for the use of human-derived materials.
• Patients who are aged 19 years or older at the time of signing the consent form.
• Patients capable of providing written consent to participate voluntarily in the study.
• Patients eligible for tissue examination and surgical removal to facilitate sample collection.
• Patients histologically confirmed with breast cancer or undergoing tissue examination for pathological confirmation due to imaging findings suggestive of breast cancer.

Exclusion Criteria:

• Patients who do not understand or refuse to consent in writing.
• Patients for whom obtaining sufficient samples is challenging.
• Patients who refuse genetic testing.

[Retrospective study]

Inclusion Criteria:

• Patients histologically confirmed with breast cancer.
• Patients for whom breast cancer tissues collected between 2012 and 2023 are stored in the Samsung Seoul Hospital Biobank and available for distribution.

Exclusion Criteria:

- Patients for whom sufficient tissue for analysis is not adequately stored.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
prospective study; The prospective study group includes patients aged 19 years or older who have provided written consent for participation, have the capability to consent voluntarily, are eligible for tissue examination and surgical removal for sample collection, and have confirmed or suspected breast cancer for pathological confirmation.	Other: no intervention needed; no intervention needed
Retrospective study; The retrospective study group includes patients who have been histologically confirmed with breast cancer and whose breast cancer tissues collected between 2012 and 2023 are stored in the Samsung Seoul Hospital Human Biobank and available for distribution.	Other: no intervention needed; no intervention needed

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Establishing individual genetic characteristics of breast cancer patients through WGS	The primary goal of this study is to elucidate the individual genetic traits of breast cancer patients through comprehensive analysis of their whole genome and observational factors.	December.31.2030

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Analysis of correlation between whole-genome sequencing results and genetic subtypes of breast cancer	Analysis of correlation between whole-genome sequencing results and genetic subtypes of breast cancer	December.31.2030

Collaborators and Investigators

• Sponsor: Inocras Korea Inc.
• Investigators: Study Chair: JeongSeok Lee, Inocras Korea Inc.

Study record dates

Study Major Dates

• Study Start (Actual): August 2, 2022
• Primary Completion (Estimated): August 2, 2025
• Study Completion (Estimated): December 31, 2030

Study Registration Dates

• First Submitted: March 20, 2024
• First Submitted That Met QC Criteria: March 20, 2024
• First Posted (Actual): March 28, 2024

Study Record Updates

• Last Update Posted (Actual): April 3, 2024
• Last Update Submitted That Met QC Criteria: April 2, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: Breast Cancer; whole genome sequencing
• Additional Relevant MeSH Terms: Skin Diseases; Neoplasms; Neoplasms by Site; Breast Diseases; Breast Neoplasms
• Other Study ID Numbers: INCS_WGS_B-001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No