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Facts for people from a family with a faulty ATM gene who are planning a pregnancy

This fact sheet contains general information. Each person should be referred to a genetic service for further information and advice about what a faulty ATM gene means for them. 

Key Points

  • Both men and women with one faulty ATM gene have an increased chance of developing cancer in adulthood. (See 'Facts for people and families with a faulty ATM gene' – eviq.org.au/p/3420)
  • Both men and women with one faulty ATM gene can pass it on to their children. 
  • Children who inherit two faulty ATM genes (one from their mother and one from their father) develop a condition called ataxia-telangiectasia. 
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Everyone has two ATM genes (one from their mother and one from their father). If one of these genes is not working, this is known as having a faulty ATM gene, or having an ATM mutation. Around 1 in 250 people have a faulty ATM gene. 

Both men and women who inherit one faulty ATM gene (either from their mother or from their father) have an increased chance of developing cancer in adulthood.

Children (both boys and girls) who inherit two faulty ATM genes, one from their mother and one from their father, develop a condition called ataxia-telangiectasia. They also have an increased risk of developing cancer. More information about ataxia-telangiectasia can be found below.

Information about the chance of developing cancer and how this can be managed is provided in 'Facts for people and families with a faulty ATM gene' – eviq.org.au/p/3420.

Not everyone with one faulty ATM gene will develop cancer.

Ataxia-telangiectasia is a rare condition that affects the nervous system, immune system, blood vessels and other organs. Health problems for people with ataxia-telangiectasia start in early childhood.

Children with ataxia-telangiectasia also have an increased chance of developing cancer over their lifetime, but the exact chance is unknown.

Most people with ataxia-telangiectasia will live into early adulthood (around 25 years of age), although some people with ataxia-telangiectasia will have a shorter lifespan.

All children with two faulty ATM genes will develop ataxia-telangiectasia.

If one parent (mother or father) in a couple has one faulty ATM gene:

  • each child has a 50% (1 in 2) chance of being born with one faulty ATM gene. A child born with one faulty ATM gene has an increased chance of developing cancer as an adult (see 'Facts for people and families with a faulty ATM gene' – eviq.org.au/p/3420).

If both parents (mother and father) in a couple have one faulty ATM gene:

  • each child has a 25% (1 in 4) chance of being born with two faulty ATM genes and developing ataxia-telangiectasia. They also have an increased chance of developing cancer.
  • each child has a 50% (2 in 4) chance of being born with one faulty ATM gene. A child born with one faulty ATM gene has an increased chance of developing cancer as an adult (see 'Facts for people and families with a faulty ATM gene' – eviq.org.au/p/3420).
  • each child has a 25% (1 in 4) chance of being born with two working ATM genes. A child born with two working ATM genes will not develop ataxia-telangiectasia and will not have an increased chance of developing cancer.

If one parent in a couple has a faulty ATM gene but it is not known if the other parent also has a faulty ATM gene, the chance of having a child with ataxia-telangiectasia is small (about 1 in 1000).

Genetic testing is the only way to find out if a person has a faulty ATM gene that they can pass on to a child. This testing may be a single gene test (where only the ATM gene is tested) or it may be undertaken as part of a broader test called reproductive genetic carrier screening.

Reproductive genetic carrier screening tests multiple genes at once. Usually, both members of the couple are tested to see if they carry genetic mutations that can cause certain genetic conditions in their child(ren). If a couple wants information about their chance of having a child with ataxia-telangiectasia, it is important that the reproductive genetic carrier screening they choose includes the ATM gene. More information about reproductive genetic carrier screening can be found here - genetics.edu.au/PDF/Reproductive_carrier_screening-fact_sheet-CGE.pdf

The options for testing for a faulty ATM gene vary between states and genetic services. In some cases, the test will not be covered by Medicare or the public health system and people may have to pay for genetic testing.

Pregnancy planning options are available to people who have a faulty ATM gene and want to prevent it from being passed on.

People from a family with a faulty ATM gene can contact their local genetic service or familial cancer centre for local advice – genetics.edu.au/SitePages/Genetic-Services.aspx

Version 3

Date Summary of changes
24/03/2023

Consumer sheet updated to align with changes made to ID 3750 Cancer predisposition genes: population carrier frequency. The changes made are as follows:

  • What is a faulty ATM gene: 
    • "Around 1 in 100 people have a faulty ATM gene." changed to "Around 1 in 250 people have a faulty ATM gene."
  • What does this mean for children or planning a pregnancy: 
    • Last sentence "... the chance of having a child with ataxia-telangiectasia is small (about 1 in 400)." changed to "...the chance of having a child with ataxia-telangiectasia is small (about 1 in 1000)."

Version increased to V.3. Approved on 24/03/2023. Published on 03/04/2023

Version 2

Date Summary of changes
23/12/2021

The following changes were made to the consumer information sheet: 

  • Section heading changed to 'How can a couple find out their chance of having a child with ataxia-telangiectasia?'
    • Added 'This testing may be a single gene test (where only the ATM gene is tested) or it may be undertaken as part of a broader test called reproductive genetic carrier screening.'
    • Second paragraph added and link to reproductive genetic carrier screening fact sheet included.

Version increased to V.2. Review in line with ID 1610. Changes published on 10/01/2022

Version 1

Date Summary of changes
28/10/2021 New consumer information sheet developed by the cancer genetics reference committee. Reviewed electronically via email and MS Teams. Approved for publication as V.1. Review in line with ID 1610. 

This cancer genetics fact sheet is a guide only and cannot cover every possible situation. The information provided is not intended to replace discussion with a health professional, and should not be interpreted as medical advice. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use of this document is subject to eviQ's disclaimer available at www.eviQ.org.au/copyright  

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The currency of this information is guaranteed only up until the date of printing, for any updates please check:

https://www.eviq.org.au/p/3968

04 Dec 2023