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

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.

Inclusion criteria

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.

Exclusion criteria

for Arms 1 and 2:

• No available paraffin-embedded tumor tissue for genomic analysis;
• Inability to collect blood for genomic evaluation.