Overview

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

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 2.86% of all cancers with non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, uterine corpus neoplasm, and malignant glioma having the greatest prevalence of alterations [3].

FANCA GENIE Cases - Top Diseases

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

FANCA GENIE Cases - Top Alterations

Significance of FANCA in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Gastric Carcinoma +

Cervical Carcinoma +

Pancreatic Carcinoma +

Pancreatic Adenocarcinoma +

Cholangiocarcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

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

Squamous Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Lung Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Anal Carcinoma +

Esophageal Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Clear Cell Renal Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Osteosarcoma +

Leiomyosarcoma +

Mesothelioma +

Soft Tissue Sarcoma +

Cancer +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

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.