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 1.37% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, melanoma, breast carcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

FANCE GENIE Cases - Top Diseases

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

FANCE GENIE Cases - Top Alterations

Significance of FANCE in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Primary Peritoneal Carcinoma +

Mantle Cell Lymphoma +

Endometrial Carcinoma +

Bladder Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Lung Adenocarcinoma +

Leiomyosarcoma +

Head And Neck Squamous Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Anal Carcinoma +

Cancer +

Diffuse Large B-Cell Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

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

Mesothelioma +

Multiple Myeloma +

Osteosarcoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

Soft Tissue Sarcoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.