Overview

Location [1]
3p25.3
Pathway
DNA damage/repair
Protein [2]
Fanconi anemia group D2 protein
Synonyms [1]
FAD, FACD, FA4, FAD2, FA-D2, FANCD

Fanconi anemia, complementation group D2 (FANCD2) 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, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

FANCD2 is altered in 2.48% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

FANCD2 GENIE Cases - Top Diseases

The most common alterations in FANCD2 are FANCD2 Mutation (1.22%), FANCD2 Amplification (0.12%), FANCD2 Frameshift (0.05%), FANCD2 D645Y (0.03%), and FANCD2 S934C (0.03%) [3].

FANCD2 GENIE Cases - Top Alterations

Significance of FANCD2 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Pancreatic Carcinoma +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Gastric Carcinoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Bladder Urothelial Carcinoma +

Melanoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Cancer +

Leiomyosarcoma +

Malignant Esophagogastric Neoplasm +

Kidney Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Invasive Breast Carcinoma +

Malignant Ovarian Epithelial Tumor +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Diffuse Large B-Cell Lymphoma +

Ewing Sarcoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Mesothelioma +

Malignant Small Intestinal Neoplasm +

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.