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Nelakurti DD, Pappula AL, Rajasekaran S, et al. Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer. Cancers (Basel). 2020;12(9)doi: 10.3390/cancers12092616.
Nelakurti, D. D., Pappula, A. L., Rajasekaran, S., Miles, W. O., & Petreaca, R. C. (2020). Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer. Cancers, 12(9), . https://doi.org/10.3390/cancers12092616
Nelakurti, Devi D, et al. "Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer." Cancers vol. 12,9 (2020). doi: https://doi.org/10.3390/cancers12092616
Nelakurti DD, Pappula AL, Rajasekaran S, Miles WO, Petreaca RC. Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer. Cancers (Basel). 2020 Sep 14;12(9). doi: 10.3390/cancers12092616. PMID: 32937789; PMCID: PMC7565326.
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Cancers (Basel). 2020 Sep 14;12(9). doi: 10.3390/cancers12092616.

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Cancers

Devi D Nelakurti, Amrit L Pappula, Swetha Rajasekaran, Wayne O Miles, Ruben C Petreaca

Affiliations

  1. Biomedical Science Undergraduate Program, The Ohio State University Medical School, Columbus, OH 43210, USA.
  2. Computer Science and Engineering Undergraduate Program, The Ohio State University, Columbus, OH 43210, USA.
  3. Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA.
  4. Department of Cancer Biology and Genetics, The Ohio State University Medical School, Columbus, OH 43210, USA.
  5. Department of Molecular Genetics, The Ohio State University, Marion, OH 43302, USA.

PMID: 32937789 PMCID: PMC7565326 DOI: 10.3390/cancers12092616

Abstract

MENIN is a scaffold protein encoded by the MEN1 gene that functions in multiple biological processes, including cell proliferation, migration, gene expression, and DNA damage repair. MEN1 is a tumor suppressor gene, and mutations that disrupts MEN1 function are common to many tumor types. Mutations within MEN1 may also be inherited (germline). Many of these inherited mutations are associated with a number of pathogenic syndromes of the parathyroid and pancreas, and some also predispose patients to hyperplasia. In this study, we cataloged the reported germline mutations from the ClinVar database and compared them with the somatic mutations detected in cancers from the Catalogue of Somatic Mutations in Cancer (COSMIC) database. We then used statistical software to determine the probability of mutations being pathogenic or driver. Our data show that many confirmed germline mutations do not appear in tumor samples. Thus, most mutations that disable MEN1 function in tumors are somatic in nature. Furthermore, of the germline mutations that do appear in tumors, only a fraction has the potential to be pathogenic or driver mutations.

Keywords: mutational signatures; pancreatic cancer; parathyroid cancer

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