Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
DNA damage/repair
Protein [2]
Fanconi anemia group D2 protein
Synonyms [1]

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 4.16% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, pancreatic adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

FANCD2 GENIE Cases - Top Diseases

The most common alterations in FANCD2 are FANCD2 Mutation (2.07%), FANCD2 X426_splice (52.66%), FANCD2 Nonsense (0.18%), FANCD2 Amplification (0.23%), and FANCD2 D645Y (0.07%) [3].

FANCD2 GENIE Cases - Top Alterations

Significance of FANCD2 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

Soft Tissue Sarcoma +

Cervical Carcinoma +

Gastrointestinal Stromal Tumor +

Melanoma +

Osteosarcoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Esophageal Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Hodgkin Lymphoma +

Medulloblastoma +

Bladder Urothelial Carcinoma +

Malignant Central Nervous System Neoplasm +

Glioma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Anal Carcinoma +

Neuroblastoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Ewing Sarcoma +

Leiomyosarcoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Cancer +

Malignant Esophagogastric Neoplasm +

Biliary Tract Carcinoma +

Malignant Small Intestinal Neoplasm +

Invasive Breast Carcinoma +

Esophageal Adenocarcinoma +

Malignant Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Diffuse Large B-Cell Lymphoma +

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

Clear Cell Renal Cell Carcinoma +

Low Grade Ovarian Serous Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Ampulla Of Vater Carcinoma +

Multiple Myeloma +

Mantle Cell Lymphoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.