Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

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

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 0.97% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

FANCC GENIE Cases - Top Diseases

The most common alterations in FANCC are FANCC Mutation (0.87%), FANCC Nonsense (0.08%), FANCC Loss (0.07%), FANCC Frameshift (0.06%), and FANCC Amplification (0.06%) [3].

FANCC GENIE Cases - Top Alterations

Significance of FANCC in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

Esophageal Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Osteosarcoma +

Head And Neck Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Gastrointestinal Stromal Tumor +

Squamous Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Penile Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Multiple Myeloma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Melanoma +

Bladder Urothelial Carcinoma +

Malignant Small Intestinal Neoplasm +

Bladder Carcinoma +

Medulloblastoma +

Mantle Cell Lymphoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Glioma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Cancer +

Malignant Ovarian Epithelial Tumor +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Invasive Breast Carcinoma +

Ewing Sarcoma +

Anal Carcinoma +

Rhabdomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Leiomyosarcoma +

Biliary Tract Carcinoma +

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

Malignant Mesothelioma +

Neuroblastoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Ampulla Of Vater Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

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.