Overview

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

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 2.68% of all cancers with breast carcinoma, non-small cell lung carcinoma, colorectal adenocarcinoma, uterine corpus neoplasm, and bladder carcinoma having the greatest prevalence of alterations [3].

FANCD2 GENIE Cases - Top Diseases

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

FANCD2 GENIE Cases - Top Alterations

Significance of FANCD2 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Gastric Carcinoma +

Cervical Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Bladder Carcinoma +

Anal Carcinoma +

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

Osteosarcoma +

Head And Neck Squamous Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Leiomyosarcoma +

Squamous Cell Lung Carcinoma +

Non-Small Cell Lung Carcinoma +

Lung Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

Mesothelioma +

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.