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The Hospital of Dénia presents in the National Congress of Human Genetics 36 genetic mutations so far not described

May 15 from 2019 - 12: 58

The Laboratory of Molecular Oncology of the Dénia Hospital has presented in the II National Congress of Human Genetics held in Madrid, 36 new genetic mutations of metastatic colon cancer not yet described in international databases after clinical research conducted on the mutational profile in metastatic colon cancer.

For the study, DNA has been extracted to 45 oncological patients from the Department of Health of Dénia with the objective of subjecting it to a massive genetic sequencing and comparing it with the reference human genome and the international databases. The purpose is to relate the results to the carcinogenic process of cancer development. According to the technician of the Laboratory, Juan Ramón Berenguer, "The finding itself is important but, most interestingly, it is a starting point for future research."

Research

The study is being developed on several levels. In the phase of sequencing and genetic identification, 113 has identified pathogenic or highly pathogenic genetic variants -which have a fundamental involvement with proteins- that affect the normal function and behavior of cells.

The clinical study has also addressed the field of pharmacogenetics to adapt oncological drugs based on the mutations found in each patient. Throughout the clinical investigation it was verified that, of the 113 pathogenic variants, an 16% had a direct implication with the pharmacological treatment, reducing its effectiveness.

According to the Director of Pharmacy of Dénia Hospital, Dr. Jaime Poquet, “The objective is none other than to personalize the treatments for each of the patients. This optimization of cancer drugs allows to increase their effectiveness and reduce their toxicity. "

Currently, the Molecular Oncology Laboratory is carrying out several oncological clinical research projects to establish new genetic markers that provide knowledge about the disease and contribute to the development of more adjusted treatments.

Molecular Oncology Laboratory

The Hospital de Dénia inaugurated its Molecular Oncology Laboratory in November of 2016, integrated in the ECMOR, through a collaboration agreement signed between the Cardenal Herrera University, CEU, of Valencia and, under the sponsorship of the NGO "Javea Cancer Care "

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