Related Experiment Video

Updated: Aug 15, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Infrequent CDKN2 (MTS1/p16) gene alterations in human primary breast cancer

E M Berns1, J G Klijn, M Smid

  • 1Division of Endocrine Oncology (Department of Medical Oncology), Dr. Daniel den Hoed Cancer Center, Rotterdam, The Netherlands.

British Journal of Cancer
|October 1, 1995
PubMed

Insights

Alterations in the CDKN2 (p16/MTS1) gene are rare in breast cancer. These genetic changes do not appear to significantly contribute to breast tumor development or progression.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Cell cycle regulation is crucial for preventing uncontrolled cell division in breast tumors.
  • Proteins like p16/MTS1 normally inhibit cell cycle progression.
  • Disruptions in cyclin production or p16/MTS1 function can promote tumor cell proliferation.

Purpose of the Study:

  • To determine the frequency of MTS1/p16 gene alterations in breast cancer.
  • To investigate the relationship between MTS1/p16 gene damage and genetic alterations in p53 and cyclin D1 genes.
  • To assess the role of MTS1/p16 gene mutations in breast tumor carcinogenesis and progression.

Main Methods:

  • Analysis of 164 primary human breast cancers and six breast cancer cell lines.
  • Investigation of gene abnormalities including homozygous deletion, single-strand conformation polymorphism, and sequencing.
  • Examination of mutations and polymorphisms in the MTS1/p16 gene.

Main Results:

  • Homozygous deletion of MTS1 exon 2 was observed in two cell lines and one primary tumor.
  • A specific mutation (codon 67) and a polymorphism (codon 140) were identified in one tumor.
  • The identified polymorphism in MTS1/p16 did not impact disease-free survival in 13 additional samples.

Conclusions:

  • Mutations in the CDKN2 (p16/MTS1) gene are infrequent in primary breast cancer.
  • MTS1/p16 gene alterations are unlikely to be a major factor in human breast tumor initiation or advancement.
  • Further research may be needed to fully elucidate the role of cell cycle regulators in breast cancer.

More Related Videos

Comparative Lesions Analysis Through a Targeted Sequencing Approach08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor09:33

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

Related Concept Videos

Inhibition of Cdk Activity02:34

Inhibition of Cdk Activity

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...
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...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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...