Molecular Genetics of Cancer


Our group works on the molecular characterization of colorectal cancer (CRC), one of the most common malignant neoplasms worldwide. Despite significant advances in the management of CRC, the overall survival for advanced and metastatic disease has changed little during the last 20 years and early diagnosis and timely removal of malignant but not yet invasive tumors still represent the best - and only - cure option.

As regards diagnostic procedures, colorectal cancer screenings of the general population for early detection of CRC are still based on Fecal Occult Blood Test (FOBT), a methodology which is neither very sensitive nor particularly specific, followed by colonoscopy in case of positive result. Colonoscopy is indeed a specific and sensitive test, but its low compliance rate and relatively high cost make it unsuitable for mass-screening purposes.

Finally, the most significant innovation in treatment is still the humanized antibody therapy (cetuximab), a personalized therapy whose effectiveness depends on the molecular profile of patients.


Ongoing Research Projects

The research projects we are conducting are a balanced mixture of innovative and applicative research, cutting edge biomarkers and new technologies, in an effort to improve the traditional therapeutic approaches to this tumor type and thus meeting the increased need for new clinical solutions.

We are currently evaluating the genetic elements we identified by multi-level integration of the molecular analyses (genome and transcriptome), we performed in the last few years on series of sporadic CRCs, for possible clinical use as biomarkers and therapeutic targets. In particular, we are conducting functional and validation studies to indentify the mechanisms altered by miRNAs deregulated in CRC and evaluate how they can affect CRC progression and development. We are also tackling a big challenge in the field of diagnostics. We intend to propose a procedure aimed at testing of CRC for both early diagnosis and follow-up by comparing standard tests, colonoscopy and FOBT, and by screening for both tumor-specific and tumor-associated nucleic acids as diagnostic biomarkers for CRC in the plasma of cancer patients.

Our aim is to develop a little invasive diagnostic tool based on qualitative and quantitative analysis of plasma circulating DNA and RNA, which has the advantages of the other two diagnostic techniques, while avoiding their limitations. Innovative devices based on nanotechnologies will be developed to detect the plasma circulating biomarkers, aiming at a performance and affordability rate that should exceed those of current diagnostic tools.

Lastly, we are studying in in vitro models and tissue samples the effects of new therapies, alone and combined with standard treatments, on both development and progression of CRC. On the same cases, we are conducting next generation sequencing analyses to identify genomic alterations, deregulated mRNAs or miRNAs linked to response or resistance to the different therapies.


Group members

Postdoc fellows

Elisabetta Crippa
Viktorija Sokolova
Angela Mogavero

Research technologist

Susanna Zanutto

PhD student

Maria Valeria Maiorana

Former members

Eugenio Zoni (PhD at Leiden University, Leiden, The Netherlands)
James F Reid (Bioinformatician at Oxford Gene Technology, Oxford, UK)
Lara Lusa (Biostatistician at the Faculty of Medicine, University of Ljubljana, Slovenia)

(last update: June 2014)



Marco Antoniotti
Department of Informatics, Systems and Communications
Università degli Studi di Milano Bicocca (Milano)

Pierpaolo Pompa
Center for Biomolecular Nanotechnologies (CBN), Istituto Italiano di Tecnologia
Arnesano (Lecce)

Lara Lusa
Faculty of Medicine
University of Ljubljana, Slovenia

George A. Calin
Department of Experimental Therapeutics, Division of Cancer Medicine
The University of Texas MD Anderson Cancer Center
Houston, TX