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Towards a complete model of the molecular network disrupted in Fanconi anaemia

15th National Research Competition in Life and Earth Sciences

Rare diseases

Senior Researcher : Miguel Ángel Genestar Pujana

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Research Centre or Institution : Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.

Abstract

A number of new components of this pathway have been identified by mass screening of physical interactions between proteins. The characterisation of these components in different cell models has revealed their role in repairing DNA damage by homologous recombination. At genetic level, common variants in this gene are associated with or modify the risk of breast cancer. Taken together, these results have been submitted for publication. Additionally, through international collaborations, the role of these new components is being genetically evaluated in patients diagnosed with Fanconi anaemia but without a known complementation group.

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