Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
16q24.3
Pathway
DNA damage/repair
Synonyms [1]
FANCH, FA1, FA-H, FAA, FACA, FAH, FA

Fanconi anemia, complementation group A (FANCA) 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 deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

Significance of FANCA in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Gastric Carcinoma +

Pancreatic Carcinoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Endometrial Carcinoma +

Gastric Adenocarcinoma +

Melanoma +

Soft Tissue Sarcoma +

Head And Neck Carcinoma +

Urothelial Carcinoma +

Bladder Urothelial Carcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Squamous Cell Lung Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Biliary Tract Carcinoma +

Bladder Carcinoma +

Bronchogenic Carcinoma +

Cancer +

Cholangiocarcinoma +

Colorectal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Glioma +

Invasive Breast Carcinoma +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Lung Carcinoma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Neoplasm +

Mantle Cell Lymphoma +

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

Medulloblastoma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

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.