About this trial
This project aims to perform complete sequencing of the somatic (tumor) and germline exomes during clinical investigation of cancer patients treated through the Brazilian Unified Health System to generate genomic and phenotypic data for the Brazilian Ministry of Health's National Precision Genomics and Health Program, called Genomas Brasil, as well as to collect data on the population's ancestry.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Women aged ≥ 18 years;
Brazilian nationality;
After review at the Hospital Moinhos de Vento, confirmed histological diagnosis of breast carcinoma with overexpression of HER2 (classified by immunohistochemistry as 3+ or 2+ with positive in-situ hybridization) or triple-negative (estrogen and progesterone receptors <1% and no overexpression of HER2);
Clinical stage II or III for HER2-positive and I, II and III for triple-negative patients - American Joint Committee on Cancer (AJCC) 8th edition;
Disqualifiers
No available paraffin-embedded tumor tissue for genomic analysis;
Inability to collect blood for genomic evaluation.
Trial population
Institutions from each region that serve Public Health System patients and have high complexity oncology care centers will be included in both Arms to provide a sample that represents the heterogeneity of the Brazilian population. Institutions previously evaluated and validated by the Brazilian Ministry of Health will be selected after completing a feasibility questionnaire. It is estimated that 25 to 30 institutions will be included (at least one from each region) in Arm 1. For Arm 2, 10 centers will be selected from among previously approved institutions.
Trial design
Cohort
Prospective
Treatments tested in this trial
whole exome and whole genome sequencing analysis
Diagnostic testSomatic and germline whole exome sequencing will be analyzed for prostate and HER2-positive breast cancer Somatic whole exome and germline whole genome sequencing will be analyzed for triple-negative breast cancer
Treatment groups
Trial outcomes
Primary outcomes
To characterize complete somatic and germline exomes/genomes in a Brazilian population
Mutations in the somatic and germline exomes/genomes of women with HER2-positive and triple-negative breast cancer and of men with metastatic prostate cancer will be described
Secondary outcomes
To identify genetic variants related to tumor prognosis
Mutations in the somatic and germline exomes/genomes will be correlated to clinical outcomes
To identify genetic variants predictive of response to treatments
Mutations in the somatic and germline exomes/genomes will be correlated to response to treatments
Number of patients with mutations in cancer-predisposing genes
Identify mutations in germline exomes/genomes related to hereditary cancer syndromes
Other outcomes
To identify the ancestry of patients with breast and prostate cancer
Characterize the genomic ancestry of Brazilian patients with breast and prostate cancer
Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Hospital Moinhos de Vento
Lead sponsor
Ministry of Health, Brazil
Collaborator