Sweden Cancerome Analysis Network - Breast : Genomic Profiling of Breast Cancer

Study Overview
=================
Brief Summary
-----------------
This study evaluates the genomic profiles of breast cancer in a prospective and population-based manner. In the first phase, breast tumors are analyzed by whole transcriptome RNA-sequencing. Gene expression profiles, mutational profiles, and transcript isoform-level data will be analyzed in the context of patient information, clinicopathological variables, and outcome, with the purpose to develop new molecular diagnostic assays for breast cancer. Additional genome-scale RNA, DNA, and protein analyses will be performed in the future.

Detailed Description
-----------------
Breast cancer exhibits significant molecular, pathological, and clinical heterogeneity. Current patient and clinicopathological evaluation is imperfect for predicting outcome, which results in overtreatment for many patients, and for others, leads to death from recurrent disease. Therefore, additional criteria are needed to better personalize care and maximize treatment effectiveness and survival. The Sweden Cancerome Analysis Network - Breast (SCAN-B) study was initiated in 2010 as a multicenter prospective population-based observational study with longsighted aims to analyze breast cancers with next-generation genomic technologies for translational research and integrated with healthcare; decipher fundamental tumor biology from these analyses; utilize genomic data to develop and validate new clinically-actionable biomarker assays; and establish real-time clinical implementation of molecular diagnostic, prognostic, and predictive tests. In the first phase, we focus on molecular profiling by next-generation RNA-sequencing. Gene expression profiles, mutational profiles, and transcript isoform-level data will be analyzed in the context of patient information, clinicopathological variables, and outcome, with the purpose to develop new molecular diagnostic assays for breast cancer. Additional genome-scale RNA, DNA, and protein analyses will be performed in the future. As of October 2021, over 17,000 patients have enrolled in the study, representing approximately 85% of all eligible patients within the catchment region. Tissue and blood collection is integrated within healthcare routines and clinical information is provided from national quality registries.

Official Title
-----------------
SCAN-B: The Sweden Cancerome Analysis Network - Breast Initiative

Conditions
-----------------
Breast Neoplasms

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: suspicion or confirmed diagnosis of primary breast cancer signed informed consent Exclusion Criteria: lack of signed informed consent
Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------
What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Biomarkers and clinicopathological information | Analysis of genomic data (biomarkers) and their relationship to patient and tumor clinicopathological information; assessment of analytical validity. | up to 20-years | 
| Invasive disease-free survival | Different biomarkers will be analysed in the context of IDFS at different time-points for different subgroups of the prospective cohort, for example for all patients receiving a particular therapy or patients with tumors of a specific molecular subtype. | up to 20-years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Overall survival | Different biomarkers will be analysed in the context of OS at different time-points for different subgroups of the prospective cohort, for example for all patients receiving a particular therapy or patients with tumors of a specific molecular subtype. | 3-years, 5-years, 10-years, 15-years, 20-years | 
| Breast cancer-specific survival | Different biomarkers will be analysed in the context of BCS at different time-points for different subgroups of the prospective cohort, for example for all patients receiving a particular therapy or patients with tumors of a specific molecular subtype. | 3-years, 5-years, 10-years, 15-years, 20-years | 
| Pathological response | Different biomarkers will be analysed in the context of pathological response at time of surgery for patients receiving pre-operative therapy. | intraoperative | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
prognostic and predictive biomarkers, RNA-sequencing, pathological complete response, minimal residual disease, molecular subtype, gene expression profiling, mutation screening, BRCA, translational research, genomics, transcriptomics, proteomics, metabolomics, liquid biopsy, circulating tumor cells, circulating tumor DNA