Comprehensive analysis of , and rearrangements in locally advanced rectal cancer.

J Genet

Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou 510515, People's Republic of China.

Published: July 2021

AI Article Synopsis

  • Gene rearrangements like ALK, ROS1, and NTRK1 are known therapeutic targets in lung cancer, but research on their relevance in locally advanced rectal cancer (LARC) is limited.
  • The study utilized mass spectrometry and RNA sequencing to investigate known gene rearrangements and look for novel gene fusions in LARC patients.
  • No significant rearrangements were detected, but three potential fusion candidates were identified; however, they did not meet validation criteria, indicating no relevant gene rearrangements in LARC.

Article Abstract

Gene rearrangements, such as anaplastic lymphoma kinase (), c-ros oncogene 1 receptor tyrosine kinase (), rearranged during transfection () and neurotrophic receptor tyrosine kinase 1 (), identified in cancer have been indicated to be robust therapeutic targets in lung carcinomas. However, a few studies have focussed on locally advanced rectal cancer (LARC). The discovery of novel gene fusions is also valuable for LARC research. We used mass spectrometry-based assays and RNA sequencing to detect both known , , and rearrangements and novel gene fusions in LARC patients. FusionMap was also used to find gene fusions. None of the , , or gene fusions were detected by mass spectrometry-based assays or RNA sequencing. Three fusion candidates, integrin subunit beta 7 ()-ROS1, lamin A/C ()- and Golgi-associated PDZ and coiled-coil motif containing ()-keratin 8 (), showed relatively high junction-spanning reads by the FusionMap algorithm, but did not pass validation. These results suggest that no , or rearrangements were found in LARC.

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