Set a gold standard for technically challenging molecular assays

The vision behind establishing a national reference for PMS2 sequencing

At the time, it was extremely difficult to sequence the pseudogene PMS2 reliably, making the analysis of germline variants in this gene highly challenging. Dr. Cabanillas saw the potential for developing a method for reliable PMS2 sequencing and aligned the necessary staff, researchers and institutional players to bring this vision to life.

Under the direction of Dr. Cabanillas, the Institute of Molecular and Oncological Medicine of Asturias (IMOMA) led the charge to contribute to the first European publications for PMS2 sequencing, which allowed for correct variant analysis of PMS2, a key cause of Lynch Syndrome. Testing for germline mutations in PMS2 to identify people with Lynch Syndrome, which is associated with a genetic predisposition to different types of cancer, has reduced morbidity and mortality in patients and their relatives.

Dr. Cabanillas used the practical success of leading-edge PMS2 sequencing as the foundation for making IMOMA a national reference for a number of technically challenging molecular analysis, including homologous and repetitive regions and copy number variations. More than a decade later, IMOMA remains an up-to-date national reference.

Our advances with PMS2 sequencing also led to the development of extremely accurate Next Generation Sequencing (NGS) gene panels for cancer, hearing loss and blindness.

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