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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Oncology

Cancer Risk and Radiation Safety

At a Glance

Ataxia-telangiectasia raises the risk of certain cancers and makes cells more sensitive to radiation from X-rays and CT scans. Unneeded scans should be avoided, but necessary imaging should not be withheld; specialists can use MRI or ultrasound when suitable and tailor cancer treatment.

Because the ATM gene is responsible for repairing DNA damage, its dysfunction makes the body’s cells less stable. This instability leads to two significant challenges: an increased risk of developing certain cancers and a heightened sensitivity to ionizing radiation (the type used in X-rays and CT scans) [1][2].

Understanding the Cancer Risk

The lifetime risk of cancer for a population with Ataxia-Telangiectasia (A-T) is estimated to be between 20% and 30%, though this varies by cohort, age, and individual phenotype [3].

  • In Childhood: Most cancers are hematologic (affecting the blood or immune system) [4]. These predominantly include Non-Hodgkin lymphoma, Hodgkin lymphoma, and Acute Lymphoblastic Leukemia (ALL), particularly the T-cell subtype [5][6]. Lymphoid malignancies remain the characteristic and most important risk in childhood.
  • In Adulthood: While blood cancers remain a risk, solid tumors (such as breast, gastric, liver, or skin cancers) are also seen in adult cohorts [4][3].

It is important to remember that these statistics describe a population and do not mean that cancer is expected in any individual patient. An A-T oncology specialist can help explain individualized risk. Regular surveillance helps doctors catch changes early [7].

Radiation Safety: Minimizing Risk Without Withholding Care

In most people, a small amount of radiation from a medical scan causes minor DNA breaks that the body quickly fixes. In A-T, those breaks are not repaired correctly [1]. This radiosensitivity means that radiation exposure must be managed carefully [8].

The Imaging Strategy:

  • Avoid Unnecessary Exposure: Routine X-rays and CT scans should be minimized when a safe, non-ionizing alternative exists [8].
  • Safe Alternatives: Doctors prefer Ultrasound and MRI when they are diagnostically adequate [9]. For example, abdominal ultrasounds can sometimes check the liver and spleen without radiation exposure.
  • Do Not Withhold Indicated Imaging: A-T causes increased cellular sensitivity, but a clinically necessary diagnostic radiograph or CT is not an absolute contraindication. Withholding needed, life-saving imaging can cause harm. If a “traditional” X-ray is absolutely necessary (such as evaluating severe respiratory distress), families should alert the radiology team to use pediatric dose optimization or ALARA (As Low As Reasonably Achievable) rather than refusing indicated imaging [10][11].

Modified Cancer Treatment

If a patient with A-T is diagnosed with cancer, their treatment plan must be designed by an experienced oncology or transplant center [12]. Standard protocols designed for the general population can be highly toxic for someone with A-T [13].

Treatment depends heavily on the malignancy, ATM function, organ status, and evolving expert protocols.

  • Because the body is more sensitive to drugs that damage DNA (called radiomimetic drugs), chemotherapy doses often require modification, though they are not automatically reduced [13][14].
  • Traditional radiotherapy is particularly hazardous and its use is carefully case-specific [15].
  • If a bone marrow transplant is needed, specialists use highly customized conditioning regimens rather than universal transplant standards [16].

Proactive Surveillance

Surveillance is individualized, and guidelines continue to evolve [7].

  • Routine Clinical Follow-Up: A cornerstone of care is regular symptom review and physical exams by an A-T specialist to feel for enlarged lymph nodes or changes in the abdomen [12].
  • Blood Monitoring: Periodic blood counts (CBC) may be clinician-directed to monitor for changes [7].
  • Imaging Surveillance: Some research centers investigate the use of “whole-body MRI” or ultrasounds as a way to screen for tumors. However, there is currently no broadly validated routine whole-body imaging schedule proven for A-T. Such imaging should be considered center-specific or investigational, keeping in mind that screening tests have both benefits and harms (including false positives and the burden of sedation) [17][18].

Common questions in this guide

How much does ataxia-telangiectasia increase cancer risk?
Studies estimate a lifetime cancer risk of about 20% to 30% for people with A-T, although estimates vary among groups, ages, and individual features. Lymphoma and leukemia are the most characteristic cancers in childhood, while adults may also develop solid tumors. This population estimate does not predict what will happen to one person.
Should people with A-T avoid all X-rays and CT scans?
No. A-T increases sensitivity to radiation, so unnecessary X-rays and CT scans should be avoided when a suitable non-radiation test is available, but clinically necessary imaging should not be withheld. The radiology team can use the lowest reasonable dose, including pediatric dose optimization when appropriate.
When can MRI or ultrasound replace an X-ray or CT scan in A-T?
MRI and ultrasound do not use ionizing radiation and are preferred when they can answer the clinical question adequately. They are not interchangeable for every problem, so the treating clinician and radiologist should decide whether one is a safe and effective substitute. The need for sedation and the urgency of the test may also affect the choice.
What cancer surveillance is recommended for someone with A-T?
Surveillance is individualized and may include regular visits, symptom review, physical examinations of the lymph nodes and abdomen, and clinician-directed blood counts. Some centers study whole-body MRI or ultrasound, but there is no broadly validated routine whole-body imaging schedule for A-T. A specialist should explain which tests are appropriate and how often they are needed.
How is cancer treatment adjusted for A-T?
Cancer treatment should be planned by an experienced oncology or transplant center because standard protocols can be unusually toxic in A-T. Chemotherapy may need dose adjustments, radiotherapy is considered very cautiously, and bone marrow transplant conditioning is customized. The plan depends on the cancer, ATM function, organ health, and the specialist team's protocol.
How can I make sure medical teams know about A-T radiosensitivity?
Ask the care team to prominently flag A-T radiosensitivity in the electronic medical record and tell radiology staff before any imaging. Keep a record of prior X-rays and CT scans so specialists can coordinate care and avoid duplicate exposure. Do not delay urgent imaging without speaking with the treating team.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How do we ensure that 'A-T Radiosensitivity' is prominently flagged in the electronic medical record to prevent accidental unnecessary X-rays or CT scans?
  2. 2.If an imaging test is needed, what specific criteria are used to decide if an MRI or ultrasound is a safe and effective substitute for an X-ray?
  3. 3.What is the specific, individualized cancer surveillance schedule for this year, and which clinical tests will be included?
  4. 4.If a procedure requires sedation, how does the respiratory health and A-T diagnosis change the anesthesia plan?
  5. 5.Does our local hospital have a direct line of communication with an A-T specialist center in case cancer-related treatment is ever needed?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
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    Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines.

    Egidi A, Filippi S, Manganello F, et al.

    Mutation research. Genetic toxicology and environmental mutagenesis 2018; (836(Pt A)):109-116 doi:10.1016/j.mrgentox.2018.06.016.

    PMID: 30389153
  2. 2

    Phenotypic Analysis of ATM Protein Kinase in DNA Double-Strand Break Formation and Repair.

    Mian E, Wiesmüller L

    Methods in molecular biology (Clifton, N.J.) 2017; (1599()):317-334 doi:10.1007/978-1-4939-6955-5_23.

    PMID: 28477129
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    ATM Mutations in Cancer: Therapeutic Implications.

    Choi M, Kipps T, Kurzrock R

    Molecular cancer therapeutics 2016; (15(8)):1781-91 doi:10.1158/1535-7163.MCT-15-0945.

    PMID: 27413114
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    Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.

    Magnarelli A, Liu Q, Wang F, et al.

    The Journal of allergy and clinical immunology 2025; (155(2)):640-649 doi:10.1016/j.jaci.2024.10.023.

    PMID: 39521281
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    Cancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in Germany.

    Dutzmann CM, Spix C, Popp I, et al.

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022; (40(1)):32-39 doi:10.1200/JCO.21.01495.

    PMID: 34597127
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    ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies.

    Elitzur S, Shiloh R, Loeffen JLC, et al.

    Blood 2024; (144(11)):1193-1205 doi:10.1182/blood.2024024283.

    PMID: 38917355
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    Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

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    Cancer medicine 2023; (12(13)):14663-14673 doi:10.1002/cam4.6075.

    PMID: 37264737
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    Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

    Blanchard-Rohner G, Peirolo A, Coulon L, et al.

    Frontiers in immunology 2022; (13()):791522 doi:10.3389/fimmu.2022.791522.

    PMID: 35154108
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    Imaging in children with ataxia-telangiectasia-The radiologist's approach.

    Jończyk-Potoczna K, Potoczny J, Szczawińska-Popłonyk A

    Frontiers in pediatrics 2022; (10()):988645 doi:10.3389/fped.2022.988645.

    PMID: 36186632
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    A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia.

    De Nardi L, Natale MF, Messia V, et al.

    Italian journal of pediatrics 2023; (49(1)):111 doi:10.1186/s13052-023-01509-5.

    PMID: 37667293
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    Orthopedic manifestations of ataxia telangiectasia in children.

    Ciftci S, Gupta A, Ulusaloglu AC, et al.

    Journal of pediatric orthopedics. Part B 2026; (35(3)):300-306 doi:10.1097/BPB.0000000000001294.

    PMID: 41017381
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    Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

    van Os NJH, Haaxma CA, van der Flier M, et al.

    Developmental medicine and child neurology 2017; (59(7)):680-689 doi:10.1111/dmcn.13424.

    PMID: 28318010
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    Bone Marrow Transplantation as Therapy for Ataxia-Telangiectasia: A Systematic Review.

    Sabino Pinho de Oliveira B, Putti S, Naro F, Pellegrini M

    Cancers 2020; (12(11)) doi:10.3390/cancers12113207.

    PMID: 33142696
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    Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.

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    Ageing research reviews 2017; (33()):76-88 doi:10.1016/j.arr.2016.05.002.

    PMID: 27181190
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    Assaying Radiosensitivity of Ataxia-Telangiectasia.

    Hu H, Nahas S, Gatti RA

    Methods in molecular biology (Clifton, N.J.) 2017; (1599()):1-11 doi:10.1007/978-1-4939-6955-5_1.

    PMID: 28477107
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    The Role of Hematopoietic Cell Transplantation in Ataxia-Telangiectasia.

    Alkhouli L, Rotz S, Takagi M, Sharma R

    Pediatric blood & cancer 2026; (73(8)):e70414 doi:10.1002/1545-5017.70414.

    PMID: 42244353
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    Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional study.

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    Cancer medicine 2024; (13(14)):e70049 doi:10.1002/cam4.70049.

    PMID: 39056567
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    Whole-body MRI for cancer surveillance in ataxia-telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families.

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This page is for informational purposes only and does not constitute medical advice about ataxia-telangiectasia. An A-T specialist, radiologist, or oncologist should guide imaging, surveillance, and cancer treatment decisions.

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