Breast Cancer, Prostate Cancer
Conditions
Keywords
breast cancer, prostate cancer, exome
Brief summary
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
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.
Interventions
DIAGNOSTIC_TESTwhole exome and whole genome sequencing analysis
Somatic 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
Sponsors
Hospital Moinhos de Vento
Ministry of Health, Brazil
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To characterize complete somatic and germline exomes/genomes in a Brazilian population | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| To identify genetic variants related to tumor prognosis | 12 months | Mutations in the somatic and germline exomes/genomes will be correlated to clinical outcomes |
| To identify genetic variants predictive of response to treatments | 12 months | Mutations in the somatic and germline exomes/genomes will be correlated to response to treatments |
| Number of patients with mutations in cancer-predisposing genes | 12 months | Identify mutations in germline exomes/genomes related to hereditary cancer syndromes |
Countries
Brazil
Contacts
PRINCIPAL_INVESTIGATORDaniela D Rosa, PhD
Hospital Moinhos de Vento
Outcome results
None listed