Author: PanCanRisk Autor

Institut Curie, Paris (France) 5-6 October 2017

Results of cross consortium analyses and overlapping results with other consortia were showed in this meeting, and the focus of each discussion was about on data collected, data analysis and timing of deliverables and milestones. Also, the partners initiated the coordination for the second phase of the project, much more functional.


(La Voz de Galicia) La Fundación Pública Galega de Medicina Xenómica (FPGMX) diagnostica 20.000 pacientes al año. La mitad, de tumores, de los que 8.000 se tratan en servicios de Oncohematología y 2.000 son hereditarios, sobre todo de mama, ovario, colon y recto. Los otros 10.000 casos son enfermedades genéticas raras, de todos los servicios hospitalarios. «Somos el centro de Genómica de mayor volumen de España. Podemos diagnosticar cualquier enfermedad genética rara, aunque no siempre es posible encontrar la causa», afirma Ángel Carracedo, quien, con Fernando Domínguez, dirige este centro del Servizo Galego de Saúde (Sergas).

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La Fundación Ramón Areces acaba de adjudicar 475.745 euros a cuatro nuevos proyectos de investigación gallegos sobre cáncer, enfermedades raras, seguridad alimentaria y energía renovable. Los cuatro proyectos fueron seleccionados de entre 631 investigaciones presentadas al concurso nacional de Ayudas a la Investigación en Ciencias de la Vida y de la Materia que la institución convoca bianualmente.
Con este concurso, la Fundación Ramón Areces pretende contribuir a consolidar una sólida estructura científica y tecnológica en nuestro país, prestando apoyo a los jóvenes. La fundación cede a los autores los derechos de propiedad intelectual o industrial que puedan derivarse de la ejecución de cada proyecto.
En los seleccionados en esta ocasión trabajarán 21 científicos gallegos durante los próximos tres años, y serán dirigidos por el catedrático de la USC Ángel Carracedo Álvarez, director de la Fundación Pública Galega de Medicina Xenómica; Miguel Ángel Fidalgo Pérez, del Centro de Investigación en Medicina Molecular (USC); Jorge Pérez Juste de la Facultad de Química (UVigo), y por Carlos Vázquez Vázquez de la Facultad de Química (USC).


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Centre for Genomic Regulation (CGR), Barcelona (Spain) 13-14 December 2016

The partners analyzed the progress of the project, with its advances and needs. Stephan Ossowski explained the development of IT tools to analyse large data sets of cancer, whole genome and whole exome data. Until then, there were about 3400 genomes of cancer patients and 15.000 whole exomes.

In the PCAWG compared about 22 different cancers, but each one of them comes from a specific country that has provided the data for it. Also, In FPGMX had a study scheduled an approach of 200 genes and select the best ones for a validation study.

Also, on December 14th, took place in Barcelona the mini-symposium “Private health data in the cloud”. This event, organized by the PanCanRisk consortium is aimed mainly at research groups and organizations, Students, Project Managers Patients and Legal Advisers interested in the protection of health data, especially genetic data.

Ethics Advisory Board (EAB) of the Consortium PanCanRisk

The EAB of the consortium PanCanRisk had a meeting on the 14Th December 2016, at the Centre for Genomic Regulation (CRG), with the aim of performing an Ethical Screening of the activities of the consortium PanCanRisk and to assess any new ethical issues that might arise during the development of the activities of the consortium.

The members of Ethics Advisory Board (EAB) of the Consortium PanCanRisk are composed by 3 independent and external members with relevant experience in ethics:

– Helena Machado, Research Professor at Centre for Social Studies, University of Coimbra, Portugal

– Carlos Romeu, Tenured Professor of Criminal Law at Univrsity of the Basque Country, Spain

– Vincenzo Lorenzo Pascali, Professor at Facoltà di Medicina e Chirurgia, Sede di  Roma. Istituto di sanita’ pubblica, Italy


Next Wednesday, December 14th, will take place in Barcelona the mini-symposium “Private health data in the cloud”.

This event, organized by the PanCanRisk consortium ( is aimed mainly at research groups and organizations, Students, Project Managers Patients and Legal Advisers interested in the protection of health data, especially genetic data.

The objective is to analyze the novelties of the new European Law of data protection and to comment with experts in the matter ethical and legal issues and the need to conciliate data security with the anonymity that is needed to preserve the identity of subjects that are tested at the clinical trials and research projects.

While data is being produced, analyzed and reanalysed at a very high speed, we lack a common ethical and legal framework to facilitate genomic and clinical data, global science collaboration, and responsible research conduct. An international code of conduct should be designed to enable global genomic and clinical data sharing for biomedical research within a human rights framework has been proposed.

In the following link you can find the program.

Registration is free, but please confirm your assistance by mail ( in order to access to the PRBB building.

We look forward to your participation and welcome your feedback via Twitter at @pancanrisk and with the HT #PrivateHealthData



‘Nature’ published the study led by Fundación Galega de Medicina Xenómica and USC 

Researchers at the National Center for Cardiovascular Research Carlos III (CNIC) in collaboration with the University of Santiago de Compostela and Zaragoza, the Medical Research Council UK and the Fundación Pública Galega de Medicina Xenómica (Sergas) demonstrated how the combination and interaction our two genomes, nuclear and mitochondrial, triggers a cellular adaptation that will have repercussions throughout our lives and that will determine the quality of aging.

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Wellcome Genome Campus Conference Centre, Hinxton, Cambridge (UK), 30-31 May 2016

The partners analyzed the progress of PanCanRisk project during the first year and also, they defined specific goals and next steps. Firstly, Stephan Ossowski discussed the development of a computational platform for sequencing-based cancer risk analysis, and Ángel Carracedo mentions that the compilation of the germline variants are very important, regardless of whether they have controls to compare patients suffering from cancer to people without the disease, and proposes the addition of other exomes from people affected by many different diseases, but mainly cancer. Stephan Ossowski reiterates that at least 100 exomes have to be added to the database each time to avoid tracing the information back to person.

Then, Hana Susak discussed tools for rare and common variant association analyses in cancer studies, Oliver Stegle analysed the identification of regulatory variants and eQTLs, integrating germline and somatic mutations and phenotypes. Gabriella Palacios and Ceres Fernandez also discussed her side of replication and clinical validation in cancer and cancer-risk cohorts.

Finally, Roslin Russell discussed the computational biomarker development for cancer predisposition genes and Aura Carreira the functional study of identified risk genes and regulatory variants.


Researchers have studied data from the International Cancer Genome Consortium (ICGC) and found that insertions of genes or parts of genes are commonplace in cancer genomes

Rearrangement of the genome is common in cancer – for example, deletions, rearrangements and inversions. However, little is known about insertions into the genome and the role they play in cancer.

To address this, the EU-funded CANCER INSERTOME (The landscape and functional impact of tumour-specific genomic insertions of 1,000 cancer genomes) initiative studied massive quantities of cancer genome data.

Insertions in the DNA arise from either transposable elements, DNA that can move around the genome, or viruses that insert themselves at random. This process is known as retrotransposition, and this is what researchers searched for.

CANCER INSERTOME found that retrotransposition occurs at least once in about half of all cancers, and more commonly in lung and colorectal cancers. For these cancers, the rates are 93 % and 75 %, respectively.

Researchers also identified a mutation process in cancer cells called L1-mediated 3′ transduction, which made up about a quarter of all retrotranspositions studied. Of these, over 2 % involved relocation of entire genes or gene regions.

This project has helped to highlight the importance of retrotransposition in cancer genomics. The understanding generated by this project will help cancer biologists fight the disease in the long term.