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- Genetic profiles of cervical tumors by high‐throughput sequencing for personalized medical care
Genetic profiles of cervical tumors by high‐throughput sequencing for personalized medical care
Auteurs
Etienne Muller, Baptiste Brault, Allyson Holmes, Angelina Legros, Emmanuelle Jeannot, Maura Campitelli, Antoine Rousselin, Nicolas Goardon, Thierry Frébourg, Sophie Krieger, Hubert Crouet, Alain Nicolas, Xavier Sastre, Dominique Vaur, Laurent Castéra
Résumé
Abstract
Cancer treatment is facing major evolution since the advent of targeted therapies. Building genetic profiles could predict sensitivity or resistance to these therapies and highlight disease‐specific abnormalities, supporting personalized patient care. In the context of biomedical research and clinical diagnosis, our laboratory has developed an oncogenic panel comprised of 226 genes and a dedicated bioinformatic pipeline to explore somatic mutations in cervical carcinomas, using high‐throughput sequencing. Twenty‐nine tumors were sequenced for exons within 226 genes. The automated pipeline used includes a database and a filtration system dedicated to identifying mutations of interest and excluding false positive and germline mutations. One‐hundred and seventy‐six total mutational events were found among the 29 tumors. Our cervical tumor mutational landscape shows that most mutations are found in
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