Overview

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

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 0.98% of all cancers with colorectal adenocarcinoma, non-small cell lung carcinoma, breast carcinoma, uterine corpus neoplasm, and malignant glioma 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 Frameshift (0.05%), FANCC Frameshift (germline) (0.05%), and FANCC Amplification (0.04%) [3].

FANCC GENIE Cases - Top Alterations

Significance of FANCC in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Non-Hodgkin Lymphoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Fallopian Tube Carcinoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Gastric Carcinoma +

Primary Peritoneal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Osteosarcoma +

Diffuse Large B-Cell Lymphoma +

Clear Cell Renal Cell Carcinoma +

Bladder Carcinoma +

Lung Adenocarcinoma +

Anal Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

Leiomyosarcoma +

Cancer +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

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

Mesothelioma +

Multiple Myeloma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Peritoneal Carcinoma +

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.