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 0.57% of all cancers with high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations .
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 +
PAX8 is an inclusion criterion in 1 clinical trial for thyroid gland carcinoma, of which 0 are open and 1 is closed. Of the trial that contains PAX8 status and thyroid gland carcinoma as inclusion criteria, 1 is phase 2 (0 open) .
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 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.