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Ataxia-telangiectasia is a rare inherited condition, caused by two faulty copies of the ATM gene, that affects balance and movement, the immune system and the lungs, and raises the risk of lymphoma and leukaemia in childhood and of breast and other cancers later. Cancer treatment has to be adapted because people with it are very sensitive to radiotherapy and some chemotherapy.
Autosomal recessive, biallelic ATM variants. Neurological signs usually lead to diagnosis; some children are found through newborn screening for severe combined immunodeficiency. Cancer incidence is about 15% by 18 and 38% by 40; in children lymphoma and leukaemia predominate, about 60% non-Hodgkin lymphoma; variant A-T with residual ATM activity carries a lower childhood haematological risk but a high risk of solid tumours such as breast cancer (AACR 2024).
The 2023 AACR workshop no longer recommends routine annual blood tests for early detection of leukaemia and lymphoma, nor whole-body MRI; it recommends an annual examination with skin check, prompt assessment of symptoms, and sun protection. Cancer treatment: reduced chemotherapy doses, avoiding radiotherapy, considering rituximab, and minimising X-ray and CT. People with one ATM variant are a separate group: the CAPS consortium (2020) includes them among the carriers offered pancreatic surveillance when a first-degree relative has had pancreatic cancer.
In plain words · ATM is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
Showing the target this term concerns: ATM.
Shares Inherited susceptibility to acute lymphoblastic leukaemia (PAX5, ETV6, IKZF1), Hereditary cancer syndromes, Germline (hereditary) testing, Acute lymphoblastic leukaemia and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Inherited susceptibility to acute lymphoblastic leukaemia (PAX5, ETV6, IKZF1), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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