Overview

Location [1]
6p21.31
Pathway
DNA damage/repair
Protein [2]
Fanconi anemia group E protein
Synonyms [1]
FACE, FAE

Fanconi anemia, complementation group E (FANCE) is a gene that encodes a protein that is a member of the Fanconi anemia complementation group. The protein complex functions in the heterogeneous recessive disorder Fanconi anemia that causes cytogenetic instability, hypersensitivity to DNA crosslinking agents, increases chromosomal breakage, and defective DNA repair. Missense mutations, nonsense mutations, silent mutations, frameshift insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

FANCE is altered in 1.19% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

FANCE GENIE Cases - Top Diseases

The most common alterations in FANCE are FANCE Mutation (0.56%), FANCE Amplification (0.05%), FANCE Frameshift (0.03%), FANCE P77T (0.03%), and FANCE Deletion (0.02%) [3].

FANCE GENIE Cases - Top Alterations

Significance of FANCE in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Carcinoma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Pancreatic Carcinoma +

Small Cell Lung Carcinoma +

Gastric Carcinoma +

Colorectal Carcinoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Colorectal Adenocarcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Melanoma +

Bladder Carcinoma +

Esophageal Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Malignant Esophagogastric Neoplasm +

Esophageal Carcinoma +

Cancer +

Invasive Breast Carcinoma +

Kidney Carcinoma +

Malignant Ovarian Epithelial Tumor +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Ewing Sarcoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Mesothelioma +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Mesothelioma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Uveal Melanoma +

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 6. 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.