Molecular diagnosis of cancer

Within the area of molecular diagnosis of cancer, our research focuses on the identification of biomarkers useful for the early diagnosis od colorectal cancer. The domains ofinterest include genomics, proteomics and epigenetics. We believe that genomic regulatory networks are useful for the identification of new markers.

Identification of new molecular markers for early diagnosis

We propose a new methodology to identify new molecular markers of early diagnosis in colorectal cancer from the analysis of complex data generated on SNPs, CNV and expression, combined with external data using techniques of systems biology. This project, is funded by FIS (Spanish Government) and the 7th Framework Program (European Commission).

We have analyzed in 100 individuals the expression in matched samples of tumour and normal mucosa using microarrays. In the same subjects we will analyze the genetic variation (SNPs and CNV), methylation and microRNA profiles. This information will be combined using network theory to identify relationships between genes using expression data, the variation and other external sources available as ontologies, pathways and literature.

The details of this project are in www.colonomics.org

Proteomic identification of biomarkers for early diagnosis 

We are conducting a project on proteomic profiling of serum to identify markers for diagnosis and prognosis. This method has been successful in other tumours (ovarian, breast, pancreas, prostate) and our group has the perfect material for analysis because we keep frozen plasma of a case-control study conducted during 1996-98. This project, funded by the FIS (Spanish Government), is done in co-operation with the Unit of Proteomics at the University of Barcelona (IDIBAPS Drs Bach and JM Estanyol). We analyzed the proteic profiles with MALDI-TOF technology in purified plasma samples from 300 cases and 300 controls. We are currently in the phase of bioinformatic analysis of these profiles to identify peaks that differ between cases and controls. The peaks are then analyzed to identify peptides or proteins that contain and that might be useful for early diagnosis of cancer using blood samples.

Early diagnosis of Colorectal Cancer with epigenetic markers

We are studying the tumor and colon healthy mucosa in a series of 45 cases with microarrays to detect the methylation status of 1500 epigenetic markers in 800 genes related to cancer. The comparisons has alowed us to identify a set of epigenetic markers that might be useful for diagnosis. In this moment we are designing studies to assess whether this molecular markers are found in the DNA extracted from faeces of people with cancer, adenomas and healthy controls. This study is carried out in co-operation with Dr. Manel Esteller of the IDIBELL.