Investigación sobre el Cáncer de Colon y Recto en el Clínic

Researchers who study colon and rectal cancer take part in many national and international trials to test new ways of preventing and treating the disease. This team is linked to the research groups in Gastrointestinal and pancreatic oncology and in Genetic predisposition to gastrointestinal cancer at IDIBAPS and is part of CIBER for liver and digestive diseases (CIBEREHD)

Lines of active research within the Gastrointestinal and pancreatic oncology Group:

• Characterisation and management of hereditary and familial forms of colorectal cancer. Led by Francesc Balaguer. Focuses on the clinical and endoscopic characterisation of hereditary and familial forms of colorectal cancer. Current projects address the study of Lynch syndrome, from the clinical perspective to the development of new immunotherapy-based prevention strategies.

• Colorectal cancer screening. Led by Antoni Castells. The research focuses on evaluating population-based strategies; studying risk factors to move towards personalised approaches; and identifying new biomarkers for colorectal cancer screening in individuals at average and intermediate risk.

• Endoscopy for the prevention and treatment of colorectal cancer. Led by Maria Pellisé. The research is based on the implementation of key performance measures and new technologies to improve the quality of screening and endoscopic surveillance in individuals at average and high risk. It also focuses on the management of neoplasia and early colorectal cancer through minimally invasive endoscopic therapeutic techniques.

• Innovation and new technologies in gastrointestinal endoscopy. Led by Gloria Fernández-Esparrach. The research focuses on the development and evaluation of new technologies to improve the performance of gastrointestinal endoscopy. The team has developed an accessory device capable of detecting and characterising colorectal polyps using microwave signals and is evaluating its performance in real clinical settings. It is also working on the development of intelligent systems to enhance the diagnostic capabilities of endoscopes and to assess quality measures.

Research lines within the Genetic predisposition to gastrointestinal cancer Group:

• Genetic association studies in colorectal cancer and advanced adenomas. Led by Sergi Castellví. This research focuses on identifying common low-penetrance genetic variants associated with the risk of colorectal cancer and/or advanced adenomas through association studies comparing genetic variation between disease cases and control cases (disease-free). These variants can be explored to identify individuals in the general population at higher risk of these lesions.
• New hereditary genes for colorectal cancer. Led by Sergi Castellví. This research focuses on discovering new genes associated with germline predisposition to colorectal cancer; including the study of familial cases (several cases within the same family); early-onset cases (before the age of 50); and serrated polyposis syndrome. It includes the application of next-generation sequencing techniques, data filtering and subsequent analysis to identify relevant candidate genes.
• Advanced functional studies of candidate genes. Led by Sergi Castellví. Candidate genes potentially responsible for colorectal and gastric cancer are evaluated to determine their ability to predispose to these neoplasms. It must be demonstrated that each identified genetic variant alters gene function and that this alteration can initiate cancer. Using advanced molecular and cellular biology techniques, such as CRISPR-Cas9 gene editing and intestinal organoids.
• Clinical relevance of new hereditary genes for gastrointestinal cancer. Led by Sergi Castellví. A genotype–phenotype correlation is carried out for the new genetic variants associated with germline predisposition to gastrointestinal cancer, in relation to the patients’ personal and family characteristics. This makes it possible to identify specific patient features that can be used to select other patients within the population, as well as to stratify risk and predict prognosis.
• COLONPREV study: randomised controlled trial of colonoscopy versus faecal immunochemical testing in colorectal cancer screening. Its aim is to compare colonoscopy and the faecal occult blood test as screening methods for colorectal cancer.
• Study aimed at identifying the genetic causes and environmental factors responsible for colorectal cancer in young adults and adolescents through multi-omics characterisation.
• Study to develop a vaccine to prevent colorectal cancer in patients with Lynch syndrome, the most common form of hereditary cancer. The aim is to evaluate the safety and efficacy of a vaccine based on dendritic cells loaded with neopeptides derived from frameshift alterations in Lynch syndrome. This is a phase IB clinical trial.
• Study of new colorectal cancer predisposition genes using advanced techniques such as CRISPR/Cas and organoid culture (PARAGON). 
• Study aimed at identifying the genetic causes and environmental factors responsible for colorectal cancer in familial cases with an unknown basis, through the integration of multi-omics data (FAMCOLOMICS).

Research lines on colorectal cancer surgery

• Liquid biopsy to evaluate residual disease after surgery. The study analyses the association between anastomotic leak and tumour recurrence.
• Population-based study by comparing laparoscopic surgery and robotic surgery in the treatment of rectal cancer.

Circulating tumour DNA as a complementary tool in evaluating response to neoadjuvant treatment in locally advanced rectal cancer.