Overview

Location [1]
11q13.1
Protein [2]
Menin
Synonyms [1]
MEAI, SCG2

Multiple endocrine neoplasia I (MEN1) is a gene that encodes menin. Menin is a tumor suppressor protein that functions in the inhibition of transcriptional activation. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions and insertions are observed in cancers such as parathyroid cancer, retroperitoneal cancer, and thymus cancer.

MEN1 is altered in 1.38% of all cancers with pancreatic neuroendocrine neoplasm, breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

MEN1 GENIE Cases - Top Diseases

The most common alterations in MEN1 are MEN1 Mutation (1.48%), MEN1 Loss (0.13%), MEN1 Amplification (0.10%), MEN1 R521Gfs*43 (0.08%), and MEN1 I85Sfs*33 (0.03%) [3].

MEN1 GENIE Cases - Top Alterations

Significance of MEN1 in Diseases

Urothelial Carcinoma +

Bladder Carcinoma +

Multiple Endocrine Neoplasia Type 1 +

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.