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Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer

Devi D Nelakurti1, Amrit L Pappula2, Swetha Rajasekaran3

  • 1Biomedical Science Undergraduate Program, The Ohio State University Medical School, Columbus, OH 43210, USA.

Cancers
|September 17, 2020
PubMed

Insights

MENIN (MEN1) gene mutations are common in tumors, but most are somatic, not inherited. While some germline mutations appear in tumors, few are pathogenic or driver mutations.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • MENIN, encoded by the MEN1 gene, is a crucial scaffold protein involved in cell proliferation, migration, gene expression, and DNA repair.
  • MEN1 functions as a tumor suppressor gene, and its mutations are prevalent across various cancer types.
  • Germline mutations in MEN1 can lead to inherited syndromes affecting the parathyroid and pancreas, potentially causing hyperplasia.

Purpose of the Study:

  • To catalog and compare germline mutations in the MEN1 gene with somatic mutations found in human cancers.
  • To statistically determine the pathogenic and driver potential of identified MEN1 mutations.

Main Methods:

  • Germline mutation data were collected from the ClinVar database.
  • Somatic mutation data were obtained from the Catalogue of Somatic Mutations in Cancer (COSMIC) database.
  • Statistical software was employed to assess mutation pathogenicity and driver status.

Main Results:

  • A significant number of cataloged germline MEN1 mutations were not detected in tumor samples.
  • The majority of MEN1 mutations disabling gene function in tumors are somatic.
  • Among germline mutations found in tumors, only a subset demonstrated potential as pathogenic or driver mutations.

Conclusions:

  • Somatic mutations are the primary drivers of MEN1 dysfunction in most tumors.
  • Germline MEN1 mutations, while associated with specific syndromes, are less frequently the cause of tumor development compared to somatic mutations.
  • Further investigation is warranted to fully understand the role and impact of specific germline MEN1 mutations in tumorigenesis.
Keywords:
mutational signaturespancreatic cancerparathyroid cancer

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