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Related Concept Videos

M-Cdk Drives Transition Into Mitosis02:15

M-Cdk Drives Transition Into Mitosis

Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
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The orderly progression of the cell cycle depends on the activation of Cdk protein by binding to its cyclin partner. However, the cell cycle must be restricted when undergoing abnormal changes. Most cancers correlate to the deregulated cell cycle, and since Cdks are a central component of the cell cycle, Cdk inhibitors are extensively studied to develop anticancer agents. For instance, cyclin D associates with several Cdks, such as Cdk 4/6, to form an active complex. The cyclin D-Cdk4/6 complex...
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Positive Regulator Molecules

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Related Experiment Video

Updated: Jun 3, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Classifying variants of CDKN2A using computational and laboratory studies.

Peter J Miller1, Sekhar Duraisamy, Joan A Newell

  • 1Department of Medicine and Vermont Cancer Center, University of Vermont College of Medicine, Burlington, Vermont 05405, USA.

Human Mutation
|April 5, 2011
PubMed
Summary
This summary is machine-generated.

A new Bayesian method effectively classifies CDKN2A missense variants linked to familial melanoma (FM). This approach integrates multiple data types to determine variant pathogenicity, improving cancer risk assessment.

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Experimental Approaches to Study Mitochondrial Localization and Function of a Nuclear Cell Cycle Kinase, Cdk1
13:15

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Published on: February 25, 2016

Area of Science:

  • Genetics
  • Oncology
  • Bioinformatics

Background:

  • Germline variants in the CDKN2A tumor suppressor gene are linked to familial melanoma (FM).
  • The functional impact and pathogenicity of many CDKN2A missense variants remain unclear.
  • Integrating diverse data types for variant classification is challenging.

Purpose of the Study:

  • To evaluate the functional effects of 51 CDKN2A missense variants using a cell cycle arrest assay.
  • To develop and validate a Bayesian method for integrating multiple data types to classify variant pathogenicity.
  • To assess the utility of this method for classifying CDKN2A variants associated with familial melanoma.

Main Methods:

  • A cell cycle arrest assay was used to assess the functional impact of 51 CDKN2A missense variants.
  • A Bayesian statistical model was employed to combine data from laboratory, computational, and epidemiological sources.
  • Variants were classified based on the derived probability of pathogenicity.

Main Results:

  • A reproducible decrease of 30% in cell cycle arrest activity correlated with familial melanoma association.
  • The Bayesian method classified 22 of 25 FM-associated variants and 8 of 15 variants of uncertain significance as likely pathogenic (>95% probability) when at least two data types were available.
  • Ten variants were classified as uncertain (5-95% probability), and data were insufficient for others.

Conclusions:

  • The Bayesian model provides a robust framework for classifying the pathogenicity of missense variants in cancer susceptibility genes like CDKN2A.
  • This integrated approach enhances the accuracy of familial melanoma risk assessment.
  • Further data are needed for definitive classification of some variants.