Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
16q24.3
Pathway
DNA damage/repair
Protein [2]
Fanconi anemia group A protein
Synonyms [1]
FAA, FA, FA1, FANCH, FACA, FAH, FA-H

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.

FANCA is altered in 2.45% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, bladder urothelial carcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

FANCA GENIE Cases - Top Diseases

The most common alterations in FANCA are FANCA Mutation (2.68%), FANCA Loss (0.22%), FANCA Nonsense (0.16%), FANCA Frameshift (0.07%), and FANCA Amplification (0.07%) [3].

FANCA GENIE Cases - Top Alterations

Significance of FANCA in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Urothelial Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Cervical Carcinoma +

Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Bladder Urothelial Carcinoma +

Squamous Cell Lung Carcinoma +

Melanoma +

Colorectal Carcinoma +

Gastric Carcinoma +

Esophageal Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Cholangiocarcinoma +

Soft Tissue Sarcoma +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Small Intestinal Neoplasm +

Esophageal Carcinoma +

Malignant Gastric Neoplasm +

Malignant Esophagogastric Neoplasm +

Diffuse Large B-Cell Lymphoma +

Cancer +

Malignant Ovarian Epithelial Tumor +

Invasive Breast Carcinoma +

Kidney Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Leiomyosarcoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Ewing Sarcoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Mesothelioma +

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_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 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.