Overview

Location [1]
1q42.12
Protein [2]
Poly [ADP-ribose] polymerase 1
Synonyms [1]
ARTD1, PARP-1, pADPRT-1, ADPRT1, "ADPRT 1", PPOL, ADPRT, PARP

Poly (ADP-ribose) polymerase 1 (PARP1) is a gene that encodes a protein that is involved in the regulation of cellular processes such as differentiation, proliferation, tumor transformation, and recovery from DNA damage. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as testicular cancer, parathyroid cancer, and stomach cancer.

PARP1 is altered in 1.36% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

PARP1 GENIE Cases - Top Diseases

The most common alterations in PARP1 are PARP1 Mutation (0.90%), PARP1 Amplification (0.32%), PARP1 Loss (0.08%), PARP1 R138C (0.02%), and PARP1 E296K (0.02%) [3].

PARP1 GENIE Cases - Top Alterations

Significance of PARP1 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Hodgkin Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Penile Carcinoma +

Melanoma +

Small Cell Lung Carcinoma +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Small Intestinal Neoplasm +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Anal Carcinoma +

Cholangiocarcinoma +

Mantle Cell Lymphoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Ampulla Of Vater Carcinoma +

Gastrointestinal Stromal Tumor +

Vaginal Carcinoma +

Vulvar 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.