Cancer Genetics Group

The Cancer Genetics Group studies the interplay between inherited cancer predisposition and the pattern of acquired genetic alterations that give rise to cancer, to understand the mechanisms of tumor initiation and progression and their role in therapy response and resistance. In fact, the fields of germline and somatic genetics are progressively more interconnected, as exemplified by shared mutation signatures that might have similar predictive value for targeted cancer therapy. Several biologically and clinically relevant tumor models are studied, with emphasis on prostate cancer. It is a multidisciplinary research group that includes medical doctors, pharmacists, biochemists and biologists, all specialized in cancer genetics.

SCIENTIFIC COORDINATOR

Manuel R. Teixeira, MD, PhD
ORCID ID/Ciência ID: 0000-0002-4896-5982/4D1D-1F29-9100
Research Coordinator/ Director of the Department of Laboratory Genetics/ Guest Full Professor (Medical Genetics and Cancer Genetics), ICBAS – School of Medicine and Biomedical Sciences, University of Porto
Email: manuel.teixeira@ipoporto.min-saude.pt

TEAM
SENIOR INVESTIGATORS

Paula Paulo, PhD
ORCID ID/Ciência ID: 0000-0001-8387-2127/F514-C818-E2FF
Assistant Researcher (2023.14811.TENURE.003)
Email: paula.paulo@ipoporto.min-saude.p

JUNIOR RESEARCHERS

Andreia Brandão, PhD
ORCID ID/Ciência ID: 0000-0003-0938-1543/EA13-D4E6-CDE1
Junior Researcher (2021.03835.CEECIND)
E-mail: andreia.aguiar.brandao@ipoporto.min-saude.pt

Manuela Pinheiro, PhD
ORCID ID/Ciência ID: 0000-0001-8228-3435/0216-6A5F-4983
LAB1 Manager (UID/00776/2025| https://doi.org/10.54499/UID/00776/2025)
E-mail: Manuela.Pinheiro@ipoporto.min-saude.pt

OTHERS RESEARCHERS

Ana Barbosa, PhD
ORCID / Ciência ID: 0000-0002-2307-1018/ E519-6872-5FE9
Clinical Biologist
E-mail: ana.barbosa@ipoporto.min-saude.pt

Ana Peixoto, PhD
ORCID /Ciência ID: 0000-0002-1404-5897 / 2014-3C52-DAC7
Oncology Pharmacist
E-mail: analuisamoura@ipoporto.min-saude.pt

Marta Cardoso, PhD 
(PI210-CI-IPOP-42-2023-RAS-BRAF)
ORCID / Ciência ID: 0000-0002-3633-1659/ EC1A-8211-2BDE
Clinical Biologist
E-mail: marta.cardoso@ipoporto.min-saude.pt

Associated Researchers

Sofia Maia, MD, PhD
ORCID/Ciência ID: 0000-0003-1837-8258 /8713-CBDB-1CD0
Genetician
Coimbra University Hospital
E-mail: s.maia@chuc.min-saude.pt

PhD Students with External Funding

Supervision

Elsa Paiva, MSc
(FCT UI/BD/154819/2023)
ORCID/Ciência ID: 0009-0007-2556-6878 /8214-06A6-66AB
E-mail: i36026@ipoporto.min-saude.pt

Co-Supervision

Mariana Gonçalves Eiras, MSc
(FCT 2024.04511.BD, in collaboration with Experimental Pathology & Therapeutics Group – EPTG & Precancerous Lesions & Early Cancer Management – PRECAM)
ORCID /Ciência ID: 0009-0006-7483-4771/F310-BAED-C2E9
E-mail: mariana.eiras@ipoporto.min-saude.pt

Roberto Miguel Pais Pinto, MSc
(FCT 2024.04316.BDANA, in collaboration with Experimental Pathology & Therapeutics Group – EPTG)
ORCID/Ciência ID: 0009-0001-7167-6249/ 5815-78B1-E99B
E-mail: roberto.pinto@ipoporto.min-saude.pt

Tatiana Almeida, MSc
(FCT 2024.00816.BD, in collaboration with Precancerous Lesions & Early Cancer Management – PRECAM)
ORCID/Ciência ID: 0000-0002-9444-8257 /CD18-88C4-CE90
E-mail: tatiana.almeida@ipoporto.min-saude.pt

PhD Students # IPO Porto Staff

Supervision

Carla Pinto, MSc
(FCT Doutor. AP 2024,16310DAP)
ORCID/Ciência ID: 0000-0001-8689-3388 / 271F-E46E-86E8
Clinical Biologist
E-mail: carla.a.pinto@ipoporto.min-saude.pt

Research Assistants/Technicians

Inês Sá, MSc
(PRECISER-COMPETE2030-FEDER-00721400)
ORCID/Ciência: 0009-0006-7450-3817/ 351B-2E0C-0FBE
E-mail: ines.sa@ipoporto.min-saude.pt

MSc Students

2026/2027

Supervision

Mariana Camões, BSc, Master in Biomedical Research, UC

Hugo Silva, BSc, Master in Oncology, ICBAS-UP

2025/2026

Supervision

Afonso Soares, BSc, Master in Oncology, ICBAS-UP

OTHER COLLABORATORS

Beatriz Pinheiro, MSc, Clinical Biologist

Carla Escudeiro, MSc, Clinical Biologist

Catarina Santos, MSc, Clinical Biologist

Cecília Correia, MSc, Clinical Biologist

Gabriela Soares, MD, Genetician

Isabel Santos, MSc, Clinical Biologist

Joana Vieira, MSc, Clinical Biologist

João Silva, MD, Genetician

Lurdes Torres, MSc, Clinical Biologist

Patrícia Arinto, MSc, Clinical Biologist

Susana Bizarro, MSc, Clinical Biologist

Susana Lisboa, MSc, Clinical Biologist

Vanessa Almeida, MSc, Clinical Biologist

AIMS

The main lines of research for the period 2024-2026 are the following:
1. To further characterize the contribution to carcinogenesis of the PRUNE2, BUB1B and IPO4 genes, which we have recently uncovered as candidate prostate cancer predisposition genes contributing to explain the missing heritability of this disease.
2. To understand the polygenic basis of hereditary predisposition to prostate cancer using a multi-omics integrative approach combining genomic and transcriptomic strategies.
3. To use cell-based strategies to screen genetic variants and compounds targeting cilia-related genes for prostate cancer development and therapy.
4. To evaluate the potential utility of anti-EGFR therapies in ETS-positive subtypes of prostate cancer.

PROJECTS WITH EXTERNAL FUNDING (click to more information)

PROJECTS WITH INTERNAL FUNDING (click to more information)

SELECTED PUBLICATIONS (up to five):

Paiva EG, Orr B, Azeredo A, Brandão A, Teixeira MR, Paulo P. EGFR-STAT3 activation provides a therapeutic rationale for targeting aggressive ETV1-positive prostate cancer. Mol Oncol. 2025;19(11): p.3287-3304. doi: 10.1002/1878-0261.70069. PMID: 40808640.

Silva MP, Ferreira LT, Brás NF, Torres L, Brandão A, Pinheiro M, Cardoso M, Resende A, Vieira J, Palmeira C, Martins G, Silva M, Pinto C, Peixoto A, Silva J, Henrique R, Maia S, Maiato H, Teixeira MR, Paulo P. BUB1B monoallelic germline variants contribute to prostate cancer predisposition by triggering chromosomal instability. J Biomed Sci. 2024; 31(1):74. doi: 10.1186/s12929-024-01056-z. PMID: 39014450.

Cardoso M, Maia S, Brandão A, Sahasrabudhe R, Lott P, Belter N, Carvajal-Carmona LG, Paulo P, Teixeira MR. Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene. Br J Cancer. 2023; 128(6):1077-1085. doi: 10.1038/s41416-022-02125-6. PMID: 36564567.

Brandão A, Paulo P, Maia S, Pinheiro M, Peixoto A, Cardoso M, Silva MP, Santos C, Eeles RA, Kote-Jarai Z, Muir K, Ukgpcs Collaborators, Schleutker J, Wang Y, Pashayan N, Batra J, Apcb BioResource, Grönberg H, Neal DE, Nordestgaard BG, Tangen CM, Southey MC, Wolk A, Albanes D, Haiman CA, Travis RC, Stanford JL, Mucci LA, West CML, Nielsen SF, Kibel AS, Cussenot O, Berndt SI, Koutros S, Sørensen KD, Cybulski C, Grindedal EM, Park JY, Ingles SA, Maier C, Hamilton RJ, Rosenstein BS, Vega A, The Impact Study Steering Committee And Collaborators, Kogevinas M, Wiklund F, Penney KL, Brenner H, John EM, Kaneva R, Logothetis CJ, Neuhausen SL, Ruyck K, Razack A, Newcomb LF, Canary Pass Investigators, Lessel D, Usmani N, Claessens F, Gago-Dominguez M, Townsend PA, Roobol MJ, The Profile Study Steering Committee, The Practical Consortium, Teixeira MR. The CHEK2 variant c.349A>G is associated with prostate cancer risk and carriers share a common ancestor. Cancers (Basel). 2020; 12(11):3254. doi: 10.3390/cancers12113254. PMID: 33158149.

Paulo P, Maia S, Pinto C, Pinto P, Monteiro A, Peixoto A, Teixeira MR. Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PLoS Genet. 2018; 14(4):e1007355. doi: 10.1371/journal.pgen.1007355. PMID: 29659569.

PATENTS

(2012) Methods and biomarkers for detection of bladder cancer; US 20130210011/ EP 2630261 A1/ WO 2012052844 A1 (in collaboration Oslo University Hospital).

NATIONAL COLLABORATIONS

Carla Oliveira, PhD | i3S
Hélder Maiato, PhD | i3S
Joana Paredes, PhD | i3S
José Bessa, PhD | i3S

INTERNATIONAL COLLABORATIONS

Luis G Carvajal-Carmona, PhD | UC Davis Genome Center, USA
Rosalind Eeles, MD, PhD (PRACTICAL consortium and IMPACT study) | Institute of Cancer Research, UK
Georgia Chenevix-Trench, PhD, FAA (CIMBA consortium) | QIMR Berghofer Medical Research Institute, Australia
Douglas Easton, PhD (BCAC consortium) | University of Cambridge, UK
Amanda Spurdle, PhD (ENIGMA consortium) | QIMR Berghofer Medical Research Institute, Australia
Nicoline Hoogerbrugge, MD, PhD (European Reference Network on Genetic Tumour Risk Syndromes, GENTURIS) | Radboud University Medical Center, The Netherlands

*The information described in the group is the sole responsibility of the respective coordinator.