Onco-Genomas Brasil: Mapping Breast and Prostate Cancer in the Brazilian Public Health System
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 882
- 试验地点
- 25
- 主要终点
- To characterize complete somatic and germline exomes/genomes in a Brazilian population
研究概览
简要总结
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.
详细描述
In Brazil, the most frequent types of neoplasm are prostate cancer in men and breast cancer in women. Understanding the molecular variants in tumors, which result from mutations and variants that occur during carcinogenesis, can affect treatment response and disease prognosis and is an important target of oncology research. Detecting hereditary genetic syndromes also helps in oncological follow-up, allowing prediction of the risk of new neoplasms. 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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •for breast cancer patients (Arm 1):
- •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;
- •HER2- positive patients: must undergo neoadjuvant chemotherapy plus trastuzumab in the following regimens: anthracycline (doxorubicin or epirubicin) followed by taxane (docetaxel or paclitaxel), combined with trastuzumab, or a non-anthracycline option consisting of taxane (docetaxel or paclitaxel) combined with carboplatin and trastuzumab;
- •Triple-negative patients: must undergo neoadjuvant chemotherapy without immunotherapy in the following regimens: anthracycline (doxorubicin or epirubicin) followed by taxane (docetaxel or paclitaxel) with/ without platins (carboplatin ou cisplatin) or a regimen without anthracycline (taxane with/without platins)
- •Patients must provide written informed consent prior to inclusion
- •Inclusion criteria for patients with prostate cancer (Arm 2):
- •Men aged ≥ 18 years;
- •Confirmed histological diagnosis of prostate adenocarcinoma;
- •AJCC 8th edition clinical stage IV;
- •Patients must provide written informed consent.
排除标准
- •for Arms 1 and 2:
- •No available paraffin-embedded tumor tissue for genomic analysis;
- •Inability to collect blood for genomic evaluation.
研究组 & 干预措施
Breast cancer
745 patients with HER2-positive and triple-negative breast cancer who underwent neoadjuvant therapy followed by breast surgery.
干预措施: whole exome and whole genome sequencing analysis (Diagnostic Test)
Prostate cancer
137 patients with metastatic prostate cancer
干预措施: whole exome and whole genome sequencing analysis (Diagnostic Test)
结局指标
主要结局
To characterize complete somatic and germline exomes/genomes in a Brazilian population
时间窗: 12 months
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
次要结局
- To identify genetic variants predictive of response to treatments(12 months)
- To identify genetic variants related to tumor prognosis(12 months)
- Number of patients with mutations in cancer-predisposing genes(12 months)