Overview

Location [1]
10q11.23
Protein [2]
DNA excision repair protein ERCC-6
Synonyms [1]
POF11, UVSS1, ARMD5, CSB, CSB-PGBD3, RAD26, COFS, COFS1, CKN2

ERCC6 is altered in 0.90% of all cancers with colon adenocarcinoma, lung adenocarcinoma, melanoma, endometrial endometrioid adenocarcinoma, and adenocarcinoma of unknown primary having the greatest prevalence of alterations [3].

ERCC6 GENIE Cases - Top Diseases

The most common alterations in ERCC6 are ERCC6 Mutation (3.26%), ERCC6 P694L (0.12%), ERCC6-PGBD3 R1010C (0.08%), ERCC6-PGBD3 H476R (0.07%), and ERCC6 K607M (0.04%) [3].

ERCC6 GENIE Cases - Top Alterations

Significance of ERCC6 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Fallopian Tube Carcinoma +

Bladder Urothelial Carcinoma +

Esophageal Carcinoma +

Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Esophagogastric Neoplasm +

Diffuse Large B-Cell Lymphoma +

Soft Tissue Sarcoma +

Small Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

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

Gastrointestinal Stromal Tumor +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Cholangiocarcinoma +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Penile Carcinoma +

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.