Overview

Location [1]
9p24.1
Protein [2]
Programmed cell death 1 ligand 1
Synonyms [1]
PDCD1L1, B7-H, PD-L1, PDCD1LG1, B7H1, hPD-L1, PDL1

CD274 molecule (CD274; also known as PDL1) is a gene that encodes a protein that is known as programmed cell death 1 ligand 1 (PD-L1). The protein functions in the transmission of the costimulatory signal that is needed for T-cell proliferation. Interaction with the protein inhibits T-cell activation and proliferation. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

CD274 is altered in 0.96% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, and diffuse large B-cell lymphoma, not otherwise specified having the greatest prevalence of alterations [3].

CD274 GENIE Cases - Top Diseases

The most common alterations in CD274 are CD274 Mutation (0.32%), CD274 Amplification (0.34%), CD274 Loss (0.30%), CD274 Fusion (0.02%), and CD274 R260H (0.02%) [3].

CD274 GENIE Cases - Top Alterations

Significance of CD274 in Diseases

Malignant Solid Tumor +

Diffuse Large B-Cell Lymphoma +

Penile Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Angiosarcoma +

Gallbladder Carcinoma +

Biliary Tract Carcinoma +

Gastric Carcinoma +

Bladder Squamous Cell Carcinoma +

Bronchioloalveolar Carcinoma +

Cervical Clear Cell Adenocarcinoma +

Desmoid-Type Fibromatosis +

Double-Hit Lymphoma +

Esophageal Undifferentiated Carcinoma +

Gestational Trophoblastic Tumor +

High Grade B-Cell Lymphoma, Not Otherwise Specified +

Lung Sarcomatoid Carcinoma +

Malignant Giant Cell Neoplasm +

Malignant Odontogenic Neoplasm +

Mucinous Tubular And Spindle Cell Carcinoma Of The Kidney +

Nasal Type Extranodal NK/T-Cell Lymphoma +

Ovarian Small Cell Carcinoma, Hypercalcemic Type +

Pecoma +

Pancreatic Acinar Cell Carcinoma +

Pancreatic Cystadenocarcinoma +

Pancreatic Serous Cystadenocarcinoma +

Peripheral T-Cell Lymphoma +

Prostate Small Cell Carcinoma +

Prostate Squamous Cell Carcinoma +

Renal Pelvis Squamous Cell Carcinoma +

Small Intestinal Undifferentiated Carcinoma +

Transformed Non-Hodgkin Lymphoma +

Undifferentiated Gastric Carcinoma +

Ureter Squamous Cell Carcinoma +

Urethral Squamous Cell Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.