Outputs (3)

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts (2023)
Journal Article
Neves, R., DeDiosPerez, B., Panek, R., Jagani, S., Wilne, S., Mahendra Bhatt, J., …Dineen, R. A. (2023). Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts. Cancer Medicine, 12(13), 14663-14673. https://doi.org/10.1002/cam4.6075

Background/Objectives: Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐T. We aime... Read More about Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts.

Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment (2023)
Journal Article
Deacon, S., Dalleywater, W., Peat, C., Paine, S. M., & Dineen, R. A. (2024). Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment. Cerebellum, 23(2), 502-511. https://doi.org/10.1007/s12311-023-01560-2

Cerebellar neurodegeneration is a classical feature of ataxia telangiectasia (A-T), an autosomal recessive condition caused by loss-of-function mutation of the ATM gene, a gene with multiple regulatory functions. The increased vulnerability of cerebe... Read More about Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.

Whole-body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families (2023)
Journal Article
Neves, R., Perez, B. D. D., Tindall, T., Fernandez, N. S., Panek, R., Wilne, S., …Glazebrook, C. (2023). Whole-body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families. Health Expectations, 26(3), 1358-1367. https://doi.org/10.1111/hex.13756

Background/Objectives: Ataxia–telangiectasia (A-T) is a complex inherited disease associated with an increased risk of malignancy. Surveillance guidelines have demonstrated significant health benefits in other cancer predisposition syndromes. However... Read More about Whole-body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A-T and their families.