Susceptibility, tumor progression and resistance
Pujana’s Lab

DESCRIPTION

Targeting cancer complexity at origin and progression

Our research is focused on better understanding breast cancer initiation and, from acquired knowledge, to assess targeted prevention strategies. In parallel, we study pan-cancer vulnerabilities and the connection to a rare, lung metastatic disease, lymphangioleiomyomatosis (LAM).

Group members

Miquel Angel Pujana

Group leaders

Principal investigator

Francesca Mateo

Researchers

Research assistant

Roderic Espín

Young investigators

PhD student

Lara Ruiz

Young investigators

PhD student

Arzoo Shabbir

Young investigators

PhD student

Luís Alfaro

Young investigators

PhD student

Publications

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

20 de November de 2025/in Pujana's Lab/by

NPJ Genom Med. 2025 Nov 20;10(1):73. doi: 10.1038/s41525-025-00529-w. ABSTRACT Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We meta-analyzed >22 million variants for 398,238 women from the Ovarian Cancer Association Consortium (OCAC), UK Biobank (UKBB) and Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) to identify novel HGSOC susceptibility loci. Eight […]

Autocrine TGF-β signaling promotes cell motility and chemokine secretion in an angiomyolipoma-derived cell model of lymphangioleiomyomatosis

1 de June de 2025/in Pujana's Lab/by

Am J Pathol. 2025 May 30:S0002-9440(25)00182-8. doi: 10.1016/j.ajpath.2025.04.019. Online ahead of print. ABSTRACT Lymphangioleiomyomatosis (LAM) is a rare systemic disease that affects young women and is classified as a low-grade metastasizing neoplasm. It is characterized by uncontrolled proliferation of LAM cells within the lung parenchyma, which results from loss-of-function mutations in tuberous sclerosis complex 2 […]

Harnessing STING Signaling and Natural Killer Cells overcomes PARP Inhibitor Resistance in Homologous Recombination Deficient Breast Cancer

11 de March de 2025/in Pujana's Lab/by

Cancer Res. 2025 Mar 11. doi: 10.1158/0008-5472.CAN-24-2531. Online ahead of print. ABSTRACT Homologous recombination deficiency (HRD) contributes to genomic instability and leads to sensitivity to poly ADP-ribose polymerase inhibitors (PARPi). HRD also activates the cyclic GMP-AMP synthase (cGAS)-STimulator of INterferon Genes (STING)-Interferon (IFN) pathway, highlighting the need to understand the impact of cGAS-STING-IFN signaling on […]

Harnessing transcriptional regulation of alternative end-joining to predict cancer treatment

10 de March de 2025/in Pujana's Lab/by

NAR Cancer. 2025 Mar 7;7(1):zcaf007. doi: 10.1093/narcan/zcaf007. eCollection 2025 Mar. ABSTRACT Alternative end-joining (alt-EJ) is an error-prone DNA repair pathway that cancer cells deficient in homologous recombination rely on, making them vulnerable to synthetic lethality via inhibition of poly(ADP-ribose) polymerase (PARP). Targeting alt-EJ effector DNA polymerase theta (POLθ), which synergizes with PARP inhibitors and can […]

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies

24 de February de 2025/in Pujana's Lab/by

Clin Genet. 2025 Feb 24. doi: 10.1111/cge.14734. Online ahead of print. ABSTRACT The mTOR cascade is a critical player in the pathogenesis of focal epilepsies and cortical malformations, collectively referred to as mTORopathies. The Ras homolog enriched in brain (RHEB) gene is a member of the RAS-family GTPases and a potent activator of the mechanistic […]

Research Projects

The group works and collaborates to decipher the systems mechanisms of cancer development and progression, with the aim of developing more precise preventive and therapeutic approaches. The group combines in silico and wet-lab studies for the purpose of identifying cancer principles and vulnerabilities.

Collaborations

CIMBA – Consortium of Investigators of Modifiers of BRCA1/2

https://cimba.ccge.medschl.cam.ac.uk/

Lobular Breast Cancer

https://lobsterpot.eu/

BRCA1 breast cancer

Khokha Lab

https://medbio.utoronto.ca/faculty/khokha

Hakem Lab

https://medbio.utoronto.ca/faculty/hakem

Maxwell Lab

https://www.bcchr.ca/cmaxwell

Serra Lab

https://vhio.net/biosketch-violeta-serra/

Cancer biology

Schramek Lab

https://schramek.lunenfeld.ca/

Li Lab

https://lilab.smhs.gwu.edu/

Barcellos-Hoff Lab

https://barcelloshofflab.ucsf.edu/principal-investigator

Cancer genetics

De Cid Lab – GCAT

http://www.gcatbiobank.org/

LAM research

Johnson Lab – LAM UK

https://www.nottingham.ac.uk/medicine/people/simon.johnson

Elżbieta Radzikowska

National Tuberculosis and Lung Diseases Research Institute, Poland

Kwiatkowski Lab

https://www.kwiatkowskilab.org/

AELAM

https://www.aelam.org/

VHIR

https://vhir.vallhebron.com/en/research/pneumology

Molina Lab

https://idibell.cat/en/research/translational-medicine-area/cardiovascular-respiratory-and-systemic-diseases-and-cellular-aging-program/pneumology/

Susceptibility, tumor progression and resistancePujana’s Lab

DESCRIPTION

Miquel Angel Pujana

Group leaders

Francesca Mateo

Researchers

Roderic Espín

Young investigators

Lara Ruiz

Young investigators

Arzoo Shabbir

Young investigators

Luís Alfaro

Young investigators

CONTACT US

Susceptibility, tumor progression and resistance
Pujana’s Lab