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Human Cancer Genetics Programme

Director: Javier Benítez
Secretary: Gema Moreno

The Human Cancer Genetics Programme is currently composed of three Research Groups: Human Genetics, Endocrine Cancer, and Genetic and Molecular Epidemiology Groups; and three Units: Human Genotyping-CEGEN and Molecular Cytogenetics and Genome Editing Units; and the Familial Cancer Clinical Unit. In addition, there is a Familial Cancer Consultancy for the evaluation of families with cancer and the provision of genetic counselling. The Consultancy is located in the Hospital Universitario de Fuenlabrada and works in close collaboration with the Oncology Service at that Hospital. The number of consultancy days and amount of families attended have increased since we set it up five years ago. Currently, we are attending to around 350 families/ year. This increase of families has resulted in a higher number of genetic and genomic diagnosis studies, which have been made possible thanks to the incorporation of a massive sequencing platform. This platform has been operational over the past year.

The Programme's core goals are centred on research, training and diagnosis. The genetic and cytogenetic study of tumours, genome editing, genetic interactions, data integration, the search for diagnostic and prognostic markers, the discovery of novel cancer-related genes and environmental factors that confer cancer susceptibility, are our main research priorities. A further complementary area of work is the application of Pharmacogenetics and Pharmacogenomics to identify genes that modify drug response. This research line focuses on a wide variety of tumours, taking advantage of the high-throughput genotyping technologies provided by the Genotyping Unit.

The Programme collaborates closely with the clinical community, not only to foster cooperation in genetic diagnosis but also to promote in training and education. During this year, the Programme’s groups have hosted 8 residents 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 longer training visits consisting of short-term stays of 1-3 months (a total of 3 international visitors from Latin America were hosted in 2016).

In terms of education, since the beginning of 2016, 1 foreign and 3 national Erasmus Master’s students and 9 national and 2 international PhD students have worked on their research projects, 1 of whom has already successfully defended her thesis.

We participate in many international and national consortia. This enables us to apply for international projects, hold international meetings and publish in the best journals. Likewise, a good collaboration with other CNIO Groups and Units is one of our main characteristics, allowing us to benefit from the internal exchange connecting people, techniques, technology and knowledge.

Milestones and major achievements of the Programme in 2016 include:

  • The co-organisation of the 6th Familial Cancer Conference in collaboration with the European School of Oncology and Nature Reviews Clinical Oncology.
  • Mercedes Robledo, Head of the Hereditary Endocrine Cancer Group, was awarded the International Medal bestowed by the Society for Endocrinology.
  • Núria Malats, Head of the Genetic and Molecular Epidemiology Group, was elected Chair of the EUPancreas COST Action.
  • Co-coordinating the BDebate on the Human Microbiome. CaixaForum, Barcelona, 29 June - 1 July 2016.
  • The co-direction of the CNIO Canceromatics III - Tumor Heterogeneity Conference, November 2016.