Onco-Genomas Brasil: Mapping Breast and Prostate Cancer in the Brazilian Public Health System

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Onco-Genomas Brasil: Mapping Breast and Prostate Cancer in the Brazilian Public Health System

Conditions
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Breast Cancer, Prostate Cancer

Intervention / Treatment
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* Diagnostic Test: whole exome sequencing analysis


Participation Criteria
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Eligibility Criteria
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Inclusion criteria for breast cancer patients (Arm 1): Women aged ≥ 18 years; After review at the Hospital Moinhos de Vento, confirmed histological diagnosis of breast carcinoma with overexpression of HER-2 (classified by immunohistochemistry as 3+ or 2+ with positive in-situ hybridization); Clinical stage II or III - American Joint Committee on Cancer (AJCC) 8th edition; 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; 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. Exclusion criteria for Arms 1 and 2: No available paraffin-embedded tumor tissue for genomic analysis; Inability to collect blood for genomic evaluation.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

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 |
| --- | --- |
| Breast cancer<br>300 patients with locally advanced HER2-positive breast cancer who underwent neoadjuvant therapy followed by breast surgery. | Diagnostic Test: whole exome sequencing analysis<br>* Somatic and germline whole exome sequencing will be analyzed<br>|
| Prostate cancer<br>250 patients with metastatic prostate cancer | Diagnostic Test: whole exome sequencing analysis<br>* Somatic and germline whole exome sequencing will be analyzed<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To characterize complete somatic and germline exomes in a Brazilian population | Mutations in the somatic and germline exomes of women with locally advanced HER2-positive breast cancer and of men with metastatic prostate cancer will be described | 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To identify genetic variants related to tumor prognosis | Mutations in the somatic and germline exomes will be correlated to clinical outcomes | 12 months | 
| To identify genetic variants predictive of response to treatments | Mutations in the somatic and germline exomes will be correlated to response to treatments | 12 months | 
| Number of patients with mutations in cancer-predisposing genes | Identify mutations in germline exomes related to hereditary cancer syndromes | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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breast cancer, prostate cancer, exome