Overview

Location [1]
17p11.2
Protein [2]
Folliculin
Synonyms [1]
BHD, FLCL

Folliculin (FLCN) is a gene that encodes a protein that functions in the pathogenesis of a rare form of kidney cancer. The protein may also have roles in tumor suppression, colorectal tumorigenesis, and energy/nutrient sensing in certain signaling pathways. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

FLCN is altered in 1.23% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and leiomyosarcoma having the greatest prevalence of alterations [3].

FLCN GENIE Cases - Top Diseases

The most common alterations in FLCN are FLCN Mutation (1.05%), FLCN Amplification (0.24%), FLCN Loss (0.13%), FLCN H429Tfs*39 (0.11%), and FLCN R17H (0.02%) [3].

FLCN GENIE Cases - Top Alterations

Significance of FLCN in Diseases

Renal Cell Carcinoma +

Malignant Solid Tumor +

B-Cell Non-Hodgkin Lymphoma +

Multiple Myeloma +

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.