Our research group investigates the molecular mechanisms underlying carcinogenesis, with a particular focus on DNA repair pathways and drug response.
We study how genetic background and DNA lesions contribute to susceptibility and progression of cancers such as breast cancer, using advanced approaches including sequencing technologies, genome editing tools, and translational models based on both in-vitro systems and patient samples. A major emphasis is placed on understanding therapeutic resistance—especially the role of microRNAs in breast cancer tumorigenesis, drug susceptibility, and resistance mechanisms involving ABC transporters and gene methylation.
By integrating genomic insights with cellular drug response, we aim to identify genetic variants and biomarkers with clinical relevance, uncover novel therapeutic targets, and develop strategies to chemosensitize resistant tumors. Ultimately, our work bridges molecular biology and clinical outcomes to improve prognostic tools and optimize cancer treatment.
Projects
MiRNA profiling in early stage and metastatic uterine carcinosarcoma (C-Met Pro).
UterineCarcinoSarcomas (UCSs) are rare and aggressive tumours. As treatment options remain limited, especially in the setting of advanced disease, there is a clinical demand to discover actionable molecular targets as well as biomarkers for prognostication and patient stratification. MiRNA are potential useful biomarkers for diagnosis, especially in the setting of advanced disease or to signal chemoresistance. Their potential therapeutic application would be extremely important in this disease with a dismay prognosis.
Ana Lázaro CANCER RESEARCH GRANT (Aug 2024 – July 2026)
Publications
- Silva, C., Ferrão, J., Marques, B., Pedro, S., Correia, H., Valente, A., ... & Vieira, L. (2025). Comparative analysis of hybrid-SNP microarray and nanopore sequencing for detection of large-sized copy number variants in the human genome. Molecular Cytogenetics, 18(1), 18.
- Gomes, B. C., Peixinho, N., Pisco, R., Gromicho, M., Pronto-Laborinho, A. C., Rueff, J., ... & Rodrigues, A. S. (2023). Differential expression of miRNAs in amyotrophic lateral sclerosis patients. Molecular neurobiology, 60(12), 7104-7117.
- Lourenço, R. A., Lança, M., Monteiro Gil, O., Cardoso, J., Lourenço, T., Pereira-Leal, J. B., ... & Nunes Silva, S. (2023). BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer. Molecular medicine reports, 28(1), 1-13.
- Silva, C., Machado, M., Ferrão, J., Sebastião Rodrigues, A., & Vieira, L. (2022). Whole human genome 5’-mC methylation analysis using long read nanopore sequencing. Epigenetics, 17(13), 1961-1975.
- Ventura, C., Torres, V., Vieira, L., Gomes, B., Rodrigues, A. S., Rueff, J., ... & Silva, M. J. (2022). New “Omics” approaches as tools to explore mechanistic nanotoxicology. In Nanotoxicology in safety assessment of nanomaterials (pp. 179-194). Cham: Springer International Publishing.
- Silva, S.N., Gomes, B.C., André, S., Félix, A., Rodrigues A.S., Rueff, J. (20219. Male and female breast cancer: the two faces of the same genetic susceptibility coin. Breast Cancer Res Treat. 2021 Jul;188(1):295-305. doi: 10.1007/s10549-021-06159-x.
Colaborations
- Luís Vieira (PhD) - Technology and Innovation Unit, Human Genetics Department, National Institute of Health, Avenida Padre Cruz, 1649-016, Lisbon, Portugal.
- Maria João Silva (PhD) - Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA), Lisbon, Portugal.
- Ana Félix (M.D., PhD)- NOVA Medical School, Lisboa, Portugal; Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal.
- Saudade André (M.D., PhD) - NOVA Medical School, Lisboa, Portugal; Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal.
- Bruno Gomes (PhD) - Escola de Psicologia e Ciências da Vida (EPCV), Departamento de Ciências da Vida, Universidade Lusófona - Centro Universitário de Lisboa, Lisboa, Portugal.
- Ana Paula Azevedo (M.D, PhD) - NOVA Medical School, Lisboa, Portugal. Clinical Pathology Department, Hospital São Francisco Xavier, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.
- Cristina Caroça (M.D, PhD) - NOVA Medical School, Universidade Nova de Lisboa, Lisboa, Portugal. Sleep Center, CUF Tejo Hospital, Lisboa, Portugal.