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Human Cancer Genetics Programme

Director: Javier Benítez
Secretary: Gema Moreno

The Human Cancer Genetics Programme (HCGP) is a translational research programme working on areas related to genetics, genomics, pharmacogenetics, molecular cytogenetics and the environmental bases of human cancer. The HCGP works in close collaboration with the clinical community.

Three Research Groups and three Units currently form the HCGP. The Human Genetics Group, led by Javier Benítez, focuses on contributing to the understanding of the genetic bases of some hereditary tumours, mainly breast cancer. Mercedes Robledo leads the Hereditary Endocrine Cancer Group that aims to identify new major susceptibility genes related to hereditary endocrine tumours as well as to define markers associated with differences in anticancer drug response and toxicity. Both Groups are also involved in the search for low susceptibility alleles that explain sporadic cancers. The Genetics and Molecular Epidemiology Group, led by Núria Malats, works not only from a genetic but also from a non-genetic point of view. She analyses exogenous factors that contribute to explain, together with genetic factors (low susceptibility alleles), the susceptibility to pancreatic and bladder cancer. The Genotyping Unit, headed by Anna González- Neira, supports our three research groups from a technical point of view, and provides support to other groups from the CNIO as well as to external users. They also work in pharmacogenetics in the framework of their own line of research. The new Molecular Cytogenetics and Genome Editing Unit, coordinated by Sandra Rodríguez-Perales, contributes to this provision of support with classical and molecular cytogenetics techniques and with new genome editing technologies. In addition, her research is focused on the design of human stem cell models carrying cytogenetic alterations. Finally, the Familial Cancer Unit coordinates the clinical part of the Programme through the CNIO Familial Cancer Consultancy, which is located at the Hospital de Fuenlabrada. Miguel Urioste is responsible for these activities and leads a research line focused on hereditary colorectal cancer.

The Programme collaborates closely with the clinical community, not only to foster cooperation in genetic diagnosis but also to promote training and education. This year the Familial Cancer Consultancy attended around 500 consultancies, performed 1,350 genetic diagnosis and carried out more than 1100 cytogenetic studies. In addition, the Programme's Groups have hosted 9 resident physicians from different Spanish hospitals for 3-month periods. We also offer professionals from different international research centres the opportunity to join us, either as visitors or for training visits consisting of short-term stays of 1-3 months (a total of 6 international and 2 national visitors were hosted in 2017). In terms of education, 1 foreign and 9 national Master's students and 10 national and 2 international PhD students have worked on their research projects, 6 of whom have already successfully defended their thesis.

Finally, one of the main objectives of the Programme is to establish research collaborations with national and international groups ; this is well demonstrated by our publication record as well as the key roles held by several of the Programme's members in consortia and international projects. Currently, we collaborate with 13 international Consortia that are representative of the main types of tumours that we focus on. In addition, we participate in 4 international projects from Europe and North America.

Milestones and major achievements of the Programme in 2017 include: (1) Mercedes Robledo: the identification of the high susceptibility gene GOT2 as being responsible for a percentage of familial pheochromocytoma; (2) Javier Benítez: the identification of the high susceptibility gene PTHR1 as being responsible for familial neuroendocrine tumours; (3) Anna González-Neira: the identification of GPR35 as a new susceptibility gene for anthracycline -induced cardiotoxicity; (4) Sandra Rodríguez: new Head of the Molecular Cytogenetics and Genome Editing Unit; (5) Núria Malats, Board Member of the International Pancreatic Cancer Case-Control Consortium (PanC4); (6) Mercedes Robledo, Member of the Organiser Committee of the ‘International Symposium on Pheochromocytoma and Paraganglioma ', Sydney, Australia, (7) Núria Malats, Co-organiser of ‘The Barcelona Debates on the Human Microbiome: From Microbes to Medicines ', CosmoCaixa Barcelona, Spain.