Topoisomerase (DNA) I (TOP1) is a gene that encodes a protein that functions as a DNA topoisomerase that regulates the topologic states of DNA during transcription. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
TOP1 is altered in 1.42% of all cancers with colon adenocarcinoma, breast invasive ductal carcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations .
The most common alterations in TOP1 are TOP1 Mutation (0.76%), TOP1 Amplification (0.65%), TOP1 Loss (0.07%), TOP1 R508C (0.03%), and TOP1 E169del (0.02%) .
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3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.