Associated Genetic Biomarkers
Dihydropyrimidine dehydrogenase (DPYD) is a gene that encodes a protein is a pyrimidine catabolic enzyme. Missense mutations, silent mutations, and nonsense mutations are observed in cancers such as skin cancer, colon cancer, and stomach cancer.
DPYD is altered in 1.01% of all cancers with melanoma, breast invasive ductal carcinoma, colon adenocarcinoma, high grade ovarian serous adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations .
The most common alterations in DPYD are DPYD A356T (0.22%), DPYD A437T (0.85%), DPYD A777D (1.85%), DPYD A777S (1.85%), and DPYD A777Y (0.22%) .
DPYD status serves as an inclusion eligibility criteria in 2 clinical trials, of which 2 are open and 0 are closed. Of the trials that contain DPYD status as an inclusion criterion, 1 is phase 1 (1 open) and 1 is phase 2 (1 open).
Trials with DPYD status in the inclusion eligibility criteria most commonly target colorectal adenocarcinoma, gastric neoplasm, and intestinal neoplasm .
The most frequent alterations to serve as inclusion eligibility criteria are DPYD Deficient Expression and DPYD Loss .
Bevacizumab, capecitabine, eniluracil, fluorouracil, and irinotecan are the most frequent therapies in trials with DPYD as an inclusion criteria .
Significance of DPYD in Diseases
Colorectal Adenocarcinoma +
DPYD is altered in 0.96% of colorectal adenocarcinoma patients .
DPYD is an inclusion criterion in 1 clinical trial for colorectal adenocarcinoma, of which 1 is open and 0 are closed. Of the trial that contains DPYD status and colorectal adenocarcinoma as inclusion criteria, 1 is phase 2 (1 open) .
Intestinal Neoplasm +
Gastric Neoplasm +
DPYD is an inclusion criterion in 1 clinical trial for gastric neoplasm, of which 1 is open and 0 are closed. Of the trial that contains DPYD status and gastric neoplasm as inclusion criteria, 1 is phase 1 (1 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 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.