Associated Genetic Biomarkers
SRY (sex determining region Y)-box 9 (SOX9) is a gene that encodes a protein that recognizes the CCTTGAG sequence on DNA. The protein regulates transcription of the anti-Muellerian hormone (AMH) gene. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as intestinal cancer, meningeal cancer, and stomach cancer.
SOX9 is altered in 2.76% of all cancers with colon adenocarcinoma, breast invasive ductal carcinoma, rectal adenocarcinoma, lung adenocarcinoma, and colorectal adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in SOX9 are SOX9 Mutation (1.40%), SOX9 Amplification (0.43%), SOX9 Loss (0.05%), SOX9 K167del (0.03%), and SOX9 X229_splice (0.03%) .
SOX9 status serves as an inclusion eligibility criteria in 1 clinical trial, of which 0 are open and 1 is closed. Of the trial that contains SOX9 status as an inclusion criterion, 1 is phase 1 (0 open).
Trials with SOX9 status in the inclusion eligibility criteria most commonly target bladder carcinoma, breast carcinoma, colorectal carcinoma, head and neck carcinoma, and lymphoma .
The most frequent alteration to serve as an inclusion eligibility criterion is SOX9 Mutation .
Extended release flucytosine and vocimagene amiretrorepvec are the most frequent therapies in trials with SOX9 as an inclusion criteria .
Significance of SOX9 in Diseases
Colorectal Carcinoma +
Bladder Carcinoma +
Malignant Solid Tumor +
Non-Small Cell Lung Carcinoma +
SOX9 is altered in 1.32% of non-small cell lung carcinoma patients .
SOX9 is an inclusion criterion in 1 clinical trial for non-small cell lung carcinoma, of which 0 are open and 1 is closed. Of the trial that contains SOX9 status and non-small cell lung carcinoma as inclusion criteria, 1 is phase 1 (0 open) .
Breast Carcinoma +
Head And Neck Carcinoma +
Ovarian Carcinoma +
Pancreatic Carcinoma +
Anaplastic Astrocytoma +
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.