Related Experiment Video

Updated: Jan 26, 2026

Building Up a High-throughput Screening Platform to Assess the Heterogeneity of HER2 Gene Amplification in Breast Cancers
11:34

Building Up a High-throughput Screening Platform to Assess the Heterogeneity of HER2 Gene Amplification in Breast Cancers

Published on: December 5, 2017

13.1K

Prevalence and role of HER2 mutations in cancer

Emiliano Cocco1, Salvatore Lopez2, Alessandro D Santin3

  • 1Human Oncology & Pathogenesis Program (HOPP), Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Pharmacology & Therapeutics
|April 6, 2019
PubMed

Insights

HER2 mutations drive cancer and can be detected using next-generation sequencing (NGS). These mutations show varied sensitivity to HER2-targeted therapies, with recent trials demonstrating drug activity in HER2-mutated tumors.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • HER2 (Human Epidermal growth factor Receptor 2) activating mutations are key oncogenic drivers in multiple cancer types.
  • These mutations can be detected via next-generation sequencing (NGS) in tumor biopsies or circulating cell-free DNA (cfDNA).

Purpose of the Study:

  • To review the prevalence and types of HER2 mutations across various human cancers.
  • To characterize the biochemical and biological properties of these mutations.
  • To assess the sensitivity of HER2 mutations to anti-HER2 therapies in preclinical and clinical contexts.

Main Methods:

  • Literature review of preclinical data and clinical trials.
  • Analysis of HER2 mutation prevalence and types in different cancer indications.
  • Evaluation of in vitro and in vivo functional data for HER2 mutations.
  • Synthesis of clinical trial outcomes for HER2-targeted therapies in mutated cancers.

Main Results:

  • HER2 "hot spot" mutations are constitutively active and possess transforming capacity.
  • Preclinical and clinical data show variable sensitivity of these mutations to anti-HER2 therapies.
  • Recent clinical trials highlight the efficacy of HER2-targeted drugs in tumors with HER2 mutations.

Conclusions:

  • HER2 mutations represent actionable targets in oncology.
  • Understanding mutation-specific sensitivity is crucial for optimizing anti-HER2 therapy selection.
  • Targeted therapies show promise for patients with HER2-mutated cancers.
Keywords:
AfatinibHER2 mutationsNeratinibNext-generation sequencing (NGS)TCGA

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

25.0K
Studying the Role of Alveolar Macrophages in Breast Cancer Metastasis07:47

Studying the Role of Alveolar Macrophages in Breast Cancer Metastasis

Published on: June 26, 2016

10.2K

Related Concept Videos

Prevalence and Incidence01:08

Prevalence and Incidence

In statistical epidemiology and health sciences, two essential metrics—prevalence and incidence—are fundamental for understanding disease dynamics within a population. These measures enable public health officials, epidemiologists, and researchers to assess the burden of diseases, allocate resources effectively, and design impactful public health policies and interventions.
Prevalence indicates the proportion of individuals in a population who have a specific disease or health...
1.7K
Mutations01:39

Mutations

Overview
94.4K
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...
44.2K
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...
14.7K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.8K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
63.6K