Genetic and therapeutic landscapes in cohort of pancreatic adenocarcinomas: next-generation sequencing and machine learning for full tumor exome analysis

About 7% of all cancer deaths are caused by pancreatic cancer (PCa). PCa is known for its lowest survival rates among all oncological diseases and heterogenic molecular profile. Enormous amount of genetic changes, including somatic mutations, exceeds the limits of routine clinical genetic laboratory tests and further stagnates the development of personalized treatments. We aimed to build a mutational landscape of PCa in the Russian population based on full exome next-generation sequencing (NGS) of the limited group of patients. Applying a machine learning model on full exome individual data we received personalized recommendations for targeted treatment options for each clinical case and summarized them in the unique therapeutic landscape.

Авторы
Shatalov P.A. 1 , Falaleeva N.A. 5 , Bykova E.A. 5 , Korostin D.O. 2 , Belova V.A. 2 , Zabolotneva A.A. 2 , Shinkarkina A.P. 5 , Gorbachev A.Y. 3 , Potievskiy M.B. 1 , Surkova V.S. 1 , Khailova Z.V. 5 , Kulemin N.A. 1 , Baranovskii Denis 5, 4 , Kostin A.A. 4 , Kaprin A.D. 1, 4 , Shegai P.V. 1
Журнал
Номер выпуска
1
Язык
Английский
Страницы
91-103
Статус
Опубликовано
Том
15
Год
2024
Организации
  • 1 National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation, Obninsk 249036, Russia
  • 2 Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow 117997, Russia
  • 3 Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency
  • 4 Peoples Friendship University of Russia (RUDN University), Moscow 117198, Russia
  • 5 National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation
Ключевые слова
pancreatic cancer; tumor mutation burden; somatic mutations; artificial intelligence; machine learning
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