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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

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Related Experiment Video

Updated: Jun 27, 2026

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models
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Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

Published on: May 17, 2024

MEN1 gene and its mutations: basic and clinical implications.

Toshihiko Tsukada1, Yuko Nagamura, Naganari Ohkura

  • 1Tumor Endocrinology Project, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo, Japan. ttsukada@ncc.go.jp

Cancer Science
|December 11, 2008
PubMed
Summary
This summary is machine-generated.

Multiple Endocrine Neoplasia type 1 (MEN1) is caused by mutations in the MEN1 gene. Research shows mutations throughout the gene impact menin

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Last Updated: Jun 27, 2026

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models
08:57

Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

Published on: May 17, 2024

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
09:33

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Multiple Endocrine Neoplasia type 1 (MEN1) is an inherited cancer syndrome caused by germline mutations in the tumor-suppressor gene MEN1.
  • MEN1 is characterized by tumors in the pituitary, parathyroid, and enteropancreatic glands.
  • The MEN1 gene product, menin, plays crucial roles in gene transcription, DNA repair, and cell cycle regulation.

Purpose of the Study:

  • To investigate the spectrum of MEN1 germline mutations and their correlation with clinical phenotypes.
  • To understand the functional consequences of various mutations on the menin protein.
  • To evaluate the utility of genetic testing for MEN1 diagnosis.

Main Methods:

  • Comprehensive mutation screening of the MEN1 gene in patients with MEN1 and related disorders.
  • Functional studies to assess the impact of identified mutations on menin protein function.
  • Clinical data analysis to explore genotype-phenotype correlations.

Main Results:

  • Various mutations were identified across the entire MEN1 gene, with no specific mutation hotspot.
  • Some missense mutations showed a potential association with familial isolated hyperparathyroidism.
  • Menin's tumor-suppressive activity appears to depend on interactions with multiple protein factors, as suggested by mutations throughout the protein.

Conclusions:

  • MEN1 mutations are diverse and distributed throughout the gene, complicating genotype-phenotype correlations.
  • Menin's tumor-suppressive function relies on interactions with various partners, and mutations can disrupt these interactions.
  • DNA testing for MEN1 mutations aids diagnosis but requires further refinement for improved clinical utility.