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]
FA-H, FA1, FACA, FAH, FA, FANCH, FAA

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 2.64% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, prostate adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

FANCA GENIE Cases - Top Diseases

The most common alterations in FANCA are FANCA Mutation (2.31%), FANCA Loss (0.24%), FANCA Nonsense (0.14%), FANCA Frameshift (0.10%), and FANCA Amplification (0.07%) [3].

FANCA GENIE Cases - Top Alterations

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 +

Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Endometrial Carcinoma +

Gastric Adenocarcinoma +

Melanoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

Urothelial Carcinoma +

Head And Neck Carcinoma +

Bladder Urothelial Carcinoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Esophageal Carcinoma +

Esophageal Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Gastrointestinal Stromal Tumor +

Osteosarcoma +

Vaginal Carcinoma +

Bladder Carcinoma +

Esophageal Squamous Cell Carcinoma +

Malignant Gastric Neoplasm +

Malignant Uterine Neoplasm +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Pancreatic Ductal Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Lung Carcinoma +

Malignant Small Intestinal Neoplasm +

Glioma +

Malignant Central Nervous System Neoplasm +

Medulloblastoma +

Cancer +

Diffuse Large B-Cell Lymphoma +

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

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Anal Carcinoma +

Malignant Ovarian Epithelial Tumor +

Biliary Tract Carcinoma +

Invasive Breast Carcinoma +

Malignant Mesothelioma +

Leiomyosarcoma +

Gallbladder Carcinoma +

Neuroblastoma +

B-Cell Non-Hodgkin Lymphoma +

Low Grade Ovarian Serous Adenocarcinoma +

Ewing Sarcoma +

Ampulla Of Vater Carcinoma +

Rhabdomyosarcoma +

Multiple Myeloma +

Bronchogenic Carcinoma +

Mantle Cell Lymphoma +

Ovarian Clear Cell Adenocarcinoma +

Penile 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.