Associated Genetic Biomarkers
GNAQ (guanine nucleotide binding protein [G protein], q polypeptide) is a gene that guanine nucleotide-binding protein G(q) subunit alpha, a subunit of one of the heterotrimeric guanine nucleotide binding proteins (G proteins). Oncogenic mutations result in a constitutively active Gα subunit (PMID: 1328859; PMID: 2549426). Receptor activation causes the dissociation of the Gα subunit from Gßγ. Both Gα and Gßγ can then activate downstream cellular signaling pathways (PMID: 1328859; PMID: 2549426).
GNAQ is altered in 0.69% of all cancers with uveal melanoma, lung adenocarcinoma, melanoma, endometrial endometrioid adenocarcinoma, and colon adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in GNAQ are GNAQ Mutation (0.61%), GNAQ Exon 5 Mutation (0.24%), GNAQ Codon 209 Missense (0.19%), GNAQ Q209P (0.12%), and GNAQ Q209L (0.07%) .
GNAQ status serves as an inclusion eligibility criteria in 3 clinical trials, of which 3 are open and 0 are closed. Of the trials that contain GNAQ status as an inclusion criterion, 1 is phase 1 (1 open), 1 is phase 1/phase 2 (1 open), and 1 is phase 2 (1 open).
Trials with GNAQ status in the inclusion eligibility criteria most commonly target melanoma, colorectal carcinoma, cutaneous melanoma, malignant solid tumor, and uveal melanoma .
The most frequent alteration to serve as an inclusion eligibility criterion is GNAQ Mutation .
Binimetinib, crizotinib, darovasertib, ipilimumab, and nivolumab are the most frequent therapies in trials with GNAQ as an inclusion criteria .
Significance of GNAQ in Diseases
Uveal Melanoma +
GNAQ is altered in 40.31% of uveal melanoma patients .
GNAQ is an inclusion criterion in 2 clinical trials for uveal melanoma, of which 2 are open and 0 are closed. Of the trials that contain GNAQ status and uveal melanoma as inclusion criteria, 1 is phase 1 (1 open) and 1 is phase 1/phase 2 (1 open) .
Cutaneous Melanoma +
Mucosal Melanoma +
Malignant Solid Tumor +
GNAQ is altered in 0.73% of malignant solid tumor patients .
GNAQ is an inclusion criterion in 1 clinical trial for malignant solid tumor, of which 1 is open and 0 are closed. Of the trial that contains GNAQ status and malignant solid tumor as inclusion criteria, 1 is phase 1/phase 2 (1 open) .
Colorectal 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.