Related Experiment Video

Updated: Apr 5, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.5K

[Discovery and clinical application of mutations in the cancer genome]

Hiroyuki Mano

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |August 19, 2015
    PubMed

    Insights

    Cancer genome and epigenome analyses reveal mutations driving cancer. Targeting these alterations, like with protein-tyrosine kinase inhibitors, offers effective cancer treatment strategies and personalized medicine approaches.

    Area of Science:

    • Oncology
    • Genomics
    • Epigenetics

    Background:

    • Cancer development is driven by somatic mutations and epigenetic alterations.
    • Genomic and epigenomic profiling is crucial for understanding cancer heterogeneity.
    • Targeted therapies based on molecular alterations have shown clinical efficacy.

    Purpose of the Study:

    • To highlight the importance of cancer genome and epigenome analyses.
    • To emphasize the role of molecularly targeted therapies in cancer treatment.
    • To underscore the significance of profiling for personalized cancer drug selection.

    Main Methods:

    • Comprehensive analysis of cancer genomes and epigenomes.
    • Identification of driver mutations and epigenetic modifications.
    • Review of clinical data for targeted therapy efficacy.

    Main Results:

    • Numerous somatic mutations conferring cancer cell characteristics have been identified.
    • Targeted therapies, including protein-tyrosine kinase inhibitors, are clinically effective.
    • Epigenetic modifiers are emerging as promising therapeutic agents.

    Conclusions:

    • Cancer genome/epigenome profiling is essential for identifying actionable targets.
    • Personalized medicine strategies rely on understanding individual cancer molecular profiles.
    • Targeted therapies offer a pathway to more effective and individualized cancer treatment.

    More Related Videos

    Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

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

    Published on: September 20, 2016

    25.2K
    Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology11:20

    Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

    Published on: March 21, 2018

    11.5K

    Related Concept Videos

    Cancer02:18

    Cancer

    Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
    55.8K
    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...
    15.5K
    Cancers Originate from Somatic Mutations in a Single Cell02:21

    Cancers Originate from Somatic Mutations in a Single Cell

    3.5K
    Cancer-Critical Genes I: Proto-oncogenes01:33

    Cancer-Critical Genes I: Proto-oncogenes

    6.3K
    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...
    12.0K
    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...
    10.1K