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A Patient Guide – Simplifying immunotherapy and it’s opportunities – HER 2 Mutation explained to simply your understanding

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Mutations Simplified HER 2 Mutation explained 

What are mutations – knowing your mutation may save your life

HER 2 – Human Epidermal Receptor 2

Complied February 2020

In this article we simplify the understanding of the “HER 2 Positive” mutation, to provide a starting point as a patient or caregiver.

Mutations mean there has been a change in your DNA

At that moment of diagnosis

It is our mission that the “Newly Diagnosed Patient and their Caregiver” are empowered with the “Collective Knowledge, Experiences & Wisdoms” from our “Globally Connected Patient and Caregivers.” An essential head start in better decision making and outcomes.

What is HER 2 ?

HER 2 – Human epidermal growth factor receptor 2

Epidermal growth factor

Epidermal means outer skin 

Commonly referred to as the HER2 Pathway

  • Receptors are expressed by the cell, they are protein structures that anchor to the cell surface (like satellite dishes)
  • The receptors function is to receive the epidermal growth signals and process them to the cells center  – (Nuclei)
  • These signals help the cell grow then divide

HER 2 is part of a family of 4 sibling HER’s -HER 1 HER 2, HER 3 & HER 4

  • For a signal to be processed into the cell the HER receptors must pair with another – this pairing is called ‘Dimerization and creates the pathway to the nuclei of the cell
  • It has been observed that the dimerization of HER 2 & HER 3 creates the most powerful signalling pathway
Immuno Beginner -HER2

What goes wrong ?

Over expression

It has been observed that some cells can have too many copies of the HER 2 gene within its nucleus, this can cause an over expression of receptors on the cells surface. With more receptors on the cell surface, comes more growth signals.

  • Cells grow too fast and do not mature properly before they divide
  • These immature cells are then referred to as mutated
  • These mutations can become cancerous
Normal Function HER 2 - Immuno Beginner

The Answer

Monoclonal highly targeted drugs
  • Immunotherapy drugs designed to perform one single task are referred to as monoclonal (monoclonal Antibodies)
  • Monoclonal drugs are designed to interfere or block the HER pathways

The science is that the monoclonal antibodies will attach a blocking agent (Blockade) to the HER 2 receptor preventing the growth factors from being received, therefore starving the mutated cell from growing.

This treatment has been very successful in Breast Cancer patients but less successful in other cancer types such as Lung or Pancreatic.

There are many trials that are searching for better results outside of breast cancer.

More Reading

Trial information

These links are a great starting point –

  1. Task – Discover a trial that matches your mutation,
  2. Task – Check the trial details with your location. 
  3. Task – Regardless of location restrictions, does your diagnosis, treatment history and mutations qualify you?

Trials are typically free of cost to patients that fit the trial criteria. If you do not fit the criteria or the trial cannot be conducted in your location, it is possible to contact the drug companies direct and ask for help. Drug companies do have a cap on cost and also compassionate policies, so it is definitely worth the effort in contacting them.

  • Clinical Trials
    Information for Patients and Caregivers
  • is a database of privately and publicly funded clinical studies conducted around the world.

The human epidermal growth factor receptor 2. A protein involved in normal cell growth. Human epidermal growth factor receptor 2 may be made in larger than normal amounts by some types of cancer cells, including breast, ovarian, bladder, pancreatic, and stomach cancers. This may cause cancer cells to grow more quickly and spread to other parts of the body. Checking the amount of human epidermal growth factor receptor 2 on some types of cancer cells may help plan treatment. Also called c-erbB-2, HER2, HER2/neu, and human EGF receptor 2.

Source: National Cancer Institute


This section will be updated periodically –

do you know of an article that we should include ? Please add the link into the comments section.

The art of innovation:
clinical development of trastuzumab deruxtecan and redefining how antibody-drug conjugates target HER2-positive cancers

Mayo Clinic Explains 
HER2-positive breast cancer is a breast cancer that tests positive for a protein called human epidermal growth factor receptor 2 (HER2), which promotes the growth of cancer cells.


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