Why does AT increase cancer risk?
AT affects the body’s DNA repair system. The ATM gene normally helps repair damaged DNA, but in people with AT this process is less effective. Over time, this can increase the risk of cancer developing.
People with Ataxia Telangiectasia (AT) have a higher risk of developing certain types of cancer.
Understanding the risks, recognising symptoms early, and accessing the right support can help ensure the best possible care. This page explains why cancer risk is increased in AT, the symptoms to look out for, and how cancer is monitored and treated.
While the chance of developing cancer is increased in people with AT, it is important to remember that not everyone with AT will develop cancer. Knowing what symptoms to look out for and seeking medical advice promptly can make a significant difference.
Children and adults with Ataxia Telangiectasia (AT) have a significantly increased risk of developing certain cancers. Research suggests that around one in four people* with AT may develop cancer during their lifetime, with many cases occurring during childhood.
The ATM (Ataxia Telangiectasia Mutated) gene plays an important role in repairing damaged DNA. When the ATM gene does not function correctly, cells can accumulate genetic damage, increasing the likelihood of cancer developing.
Important Information About Cancer and AT
For people with AT and their families, as well as professionals involved in their care, it is important to be aware of the possibility of cancer development and that any unusual or different symptoms be reported and investigated by a doctor as soon as possible. Please see our Cancer Statement for more information.
Key Facts About Cancer and AT
Research shows that people with AT have an increased risk of developing certain cancers. These key facts provide a quick overview.
Increased Cancer Risk
People with AT have a higher cancer risk.
Around 1 in 4
Around one in four people with AT may develop cancer.
Childhood Cancers
Lymphoma and leukaemia are the most common childhood cancers.
Breast Cancer Risk
Adult women with AT have an increased breast cancer risk.
Early Investigation
New or unusual symptoms should be investigated promptly.
Treatment Adaptations
Treatment may need to be adapted for people with AT.
Understanding Cancer Risk in AT
What cancers are more common?
People with AT are more likely to develop:
Lymphoma, leukaemia, breast cancer in adult women with AT (see our AT and Breast Cancer information), and occasionally other cancers, though these are less common.
What symptoms should we look for?
For people with AT and their families, as well as professionals involved in their care, it is important to be aware of the possibility of cancer development and that any unusual or different symptoms be reported and investigated by a doctor as soon as possible. Please see our Cancer Statement for more information.
Symptoms can vary, but may include: unexplained tiredness, persistent infections, swollen glands, unusual bruising or bleeding, and ongoing pain or discomfort. Any persistent or concerning symptoms should be checked by a doctor.
How is cancer treated in people with AT?
Cancer treatment may need to be adapted because people with AT can be more sensitive to certain therapies.
Specialists with experience of AT will work with local healthcare teams to develop the safest and most effective treatment plan.
Are treatments different for people with AT?
Yes. Some treatments may require lower doses or alternative approaches.
Treating cancer in children and adults with AT can be particularly challenging because of increased sensitivity to treatments such as radiotherapy and the impact of immune system problems.
Growing knowledge and clinical experience have, however, improved outcomes and support available for people with AT.
Best Clinical Care Guidance
Our Best Clinical Care Guide includes detailed information about cancer and AT.
See pages 21-25 for further information.
We’re here to support you
If you have AT and have been diagnosed with cancer – or if you have
any questions about anything on this page – please get in touch with our Support Team.
You can contact Kay Atkins or Anne Murray on 01582 760733,
or email [email protected].
*Reference
Children and adults with Ataxia Telangiectasia (AT) have a significantly increased risk of developing cancer. Figures published in 2011 from the UK and the Netherlands suggest an incidence of approximately 22%, with around 65% of cases occurring during childhood [1]. Data from a French cohort published in 2015 reported a similar incidence of about 25% [2].
*References supporting the figures in the introduction:
1. Reiman A, Srinivasan V, Barone G et al. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer. 2011 Aug 9;105(4):586-91. doi: 10.1038/bjc.2011.266. Epub 2011 Jul 26.
2. Suarez F, Mahlaoui N, Canioni D et al. Incidence, presentation, and prognosis of malignancies in ataxia telangiectasia: a report from the French national registry of primary immune deficiencies. J Clin Oncol. 2015 Jan 10;33(2):202-8. doi: 10.1200/JCO.2014.56.5101. Epub 2014 Dec 8.