Overview

Location [1]
2p16.1
Pathway
DNA damage/repair
Synonyms [1]
POG, PHF9, FAAP43

Fanconi anemia, complementation group L (FANCL) 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 are observed in cancers such as intestinal cancer, liver cancer, and lung cancer.

Biomarker-Directed Therapies

Significance of FANCL in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Pancreatic Adenocarcinoma +

Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Urothelial Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Soft Tissue Sarcoma +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Squamous Cell Lung Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Cancer +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Colorectal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Adenocarcinoma +

Ewing Sarcoma +

Gastric Adenocarcinoma +

Glioma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Medulloblastoma +

Melanoma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Renal Cell Carcinoma +

Rhabdomyosarcoma +

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 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.