SRY (sex determining region y)-box 2 (SOX2) is a gene that encodes a transcription factor protein that is a member of the SOX family. The protein functions in the regulation of embryonic development and stem-cell maintenance in the central nervous system. Missense mutations and silent mutations are observed in cancers such as cervical cancer, endometrial cancer, and intestinal cancer.
SOX2 is altered in 1.34% of all cancers with squamous cell lung carcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, lung adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations .
The most common alterations in SOX2 are SOX2 Amplification (0.79%), SOX2 Loss (0.03%), SOX2 A191T (0.03%), SOX2 A151V (0.01%), and SOX2 A263V (0.01%) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
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.