Associated Genetic Biomarkers
Inositol polyphosphate-5-phosphatase (INPP5D) is a gene that encodes a protein that utilizes hydrolysis of the 5' phosphate from phosphatidylinositol (3, 4, 5)-triphosphate and inositol-1, 3, 4, 5-tetrakisphosphate to alter/affect cell signaling pathways. Specifically, the protein may function in nuclear inositol phosphate signaling. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.
INPP5D is altered in 0.12% of all cancers with colon adenocarcinoma, lung adenocarcinoma, non-small cell lung carcinoma, cancer, NOS, and melanoma having the greatest prevalence of alterations .
The most common alterations in INPP5D are INPP5D Mutation (2.31%), INPP5D C6* (2.08%), INPP5D D172N (0.08%), INPP5D D307N (0.08%), and INPP5D D566N (0.08%) .
INPP5D status serves as an inclusion eligibility criteria in 1 clinical trial, of which 1 is open and 0 are closed. Of the trial that contains INPP5D status as an inclusion criterion, 1 is phase 1 (1 open).
Trials with INPP5D status in the inclusion eligibility criteria most commonly target malignant solid tumor .
The most frequent alteration to serve as an inclusion eligibility criterion is INPP5D Mutation .
Paxalisib and radiation therapy are the most frequent therapies in trials with INPP5D as an inclusion criteria .
Significance of INPP5D in Diseases
Malignant Solid Tumor +
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.