Overview

Location [1]
2p16.1
Pathway
DNA damage/repair
Protein [2]
E3 ubiquitin-protein ligase FANCL
Synonyms [1]
PHF9, FAAP43, 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 0.77% of all cancers with colon adenocarcinoma, breast invasive ductal carcinoma, and lung adenocarcinoma having the greatest prevalence of alterations [3].

FANCL GENIE Cases - Top Diseases

The most common alterations in FANCL are FANCL Mutation (0.19%), FANCL P365Qfs*15 (0.01%), FANCL R221W (0.01%), FANCL T367Ifs*13 (0.01%), and FANCL D208N (0.00%) [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 +

Pancreatic Adenocarcinoma +

Urothelial Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

Malignant Esophagogastric Neoplasm +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Melanoma +

Cancer +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Ewing Sarcoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Kidney Carcinoma +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Gastric Neoplasm +

Malignant Mesothelioma +

Malignant Ovarian Epithelial Tumor +

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 +

Renal Cell 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.