Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

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

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 1.38% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

FANCE GENIE Cases - Top Diseases

The most common alterations in FANCE are FANCE Mutation (1.25%), FANCE Amplification (0.14%), FANCE Frameshift (0.09%), FANCE P77T (0.13%), and FANCE P310Q (0.04%) [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 +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Adenocarcinoma +

Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

Esophageal Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Gastrointestinal Stromal Tumor +

Mantle Cell Lymphoma +

Neuroblastoma +

Melanoma +

Bladder Urothelial Carcinoma +

Ewing Sarcoma +

Colorectal Adenocarcinoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

Bladder Carcinoma +

Esophageal Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Glioma +

Malignant Esophagogastric Neoplasm +

Malignant Central Nervous System Neoplasm +

Cancer +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Invasive Breast Carcinoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Biliary Tract Carcinoma +

Clear Cell Renal Cell Carcinoma +

Leiomyosarcoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Mesothelioma +

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

Medulloblastoma +

Multiple Myeloma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

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.