Overview

Location [1]
2p16.1
Pathway
DNA damage/repair
Protein [2]
E3 ubiquitin-protein ligase FANCL
Synonyms [1]
FAAP43, PHF9, POG

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.

FANCL is altered in 1.15% of all cancers with colon adenocarcinoma, lung adenocarcinoma, conventional glioblastoma multiforme, endometrial endometrioid adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

FANCL GENIE Cases - Top Diseases

The most common alterations in FANCL are FANCL Mutation (1.06%), FANCL T367fs (0.38%), FANCL M1? (0.08%), FANCL R221W (0.06%), and FANCL P365fs (0.30%) [3].

FANCL GENIE Cases - Top Alterations

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 +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Soft Tissue Sarcoma +

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Squamous Cell Lung Carcinoma +

Gastrointestinal Stromal Tumor +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Malignant Mesothelioma +

Rhabdomyosarcoma +

Esophageal Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Bladder Carcinoma +

Malignant Small Intestinal Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

Colorectal Adenocarcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

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

Melanoma +

Multiple Myeloma +

Biliary Tract Carcinoma +

Cancer +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Medulloblastoma +

Glioma +

Malignant Central Nervous System Neoplasm +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Ewing Sarcoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Leiomyosarcoma +

Mantle Cell Lymphoma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Renal Cell Carcinoma +

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.