Overview

Location [1]
9q22.32
Pathway
DNA damage/repair
Protein [2]
Fanconi anemia group C protein
Synonyms [1]
FA3, FAC, FACC

Fanconi anemia, complementation group C (FANCC) 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, and frameshift deletions are observed in cancers such as kidney cancer, skin cancer, and cancers of the upper aerodigestive tract.

FANCC is altered in 0.80% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

FANCC GENIE Cases - Top Diseases

The most common alterations in FANCC are FANCC Mutation (0.86%), FANCC Mutation (germline) (0.86%), FANCC Mutation (somatic) (0.86%), FANCC Frameshift (0.05%), and FANCC Frameshift (germline) (0.05%) [3].

FANCC GENIE Cases - Top Alterations

Significance of FANCC in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Endometrial Carcinoma +

Pancreatic Adenocarcinoma +

Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Squamous Cell Lung Carcinoma +

Colorectal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Bladder Carcinoma +

Melanoma +

Lung Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Cancer +

Malignant Ovarian Epithelial Tumor +

Kidney Carcinoma +

Malignant Esophagogastric Neoplasm +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Ewing Sarcoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Gastric Neoplasm +

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_20171026. 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.