Associated Genetic Biomarkers
Paired box 8 (PAX8) is a gene that encodes a protein that is a transcription factor involved in thyroid follicular cell development and expression of thyroid-specific genes. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as skin cancer, colon cancer, and endometrial cancer.
PAX8 is altered in 0.12% of all cancers with high grade ovarian serous adenocarcinoma, conventional glioblastoma multiforme, breast invasive ductal carcinoma, head and neck squamous cell carcinoma, and uterine corpus carcinosarcoma having the greatest prevalence of alterations .
The most common alterations in PAX8 are PAX8-PPARG Fusion (0.01%), PAX8 R242Q (0.25%), PAX8 S193N (0.13%), PAX8 A149T (0.39%), and PAX8 A248T (0.30%) .
PAX8 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 PAX8 status as an inclusion criterion, 1 is phase 2 (0 open).
The most frequent alteration to serve as an inclusion eligibility criterion is PAX8-PPARG Fusion .
Significance of PAX8 in Diseases
Thyroid Gland Carcinoma +
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.