Overview

Location [1]
11p14.3
Pathway
DNA damage/repair
Protein [2]
Fanconi anemia group F protein
Synonyms [1]
FAF

Fanconi anemia, complementation group F (FANCF) 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, nonsense, and silent mutations are observed in cancers such as intestinal cancer, lung cancer, and skin cancer.

FANCF is altered in 1.10% of all cancers with non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, malignant glioma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

FANCF GENIE Cases - Top Diseases

The most common alterations in FANCF are FANCF Mutation (0.49%), FANCF Mutation (germline) (0.49%), FANCF Frameshift (0.02%), FANCF Frameshift (germline) (0.02%), and FANCF Amplification (0.02%) [3].

FANCF GENIE Cases - Top Alterations

Significance of FANCF in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Gastric Carcinoma +

Cholangiocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Cervical Carcinoma +

Primary Peritoneal Carcinoma +

Leiomyosarcoma +

Mesothelioma +

Clear Cell Renal Cell Carcinoma +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Lung Adenocarcinoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

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

Diffuse Large B-Cell Lymphoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

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.