Breast Irradiation Is Well Tolerated in Carriers of a Pathogenic ATM Variant

Zureick, Andrew H.; Zakalik, Dana; Quinn, Thomas J.; Rangarajan, Tara S.; Grzywacz, Vincent P.; Rotenbakh, Leah R.; Chen, Peter Y.; Dilworth, Joshua T.

doi:10.1016/j.prro.2023.09.001

Practical Radiation Oncology

2024

DOI: 10.1016/j.prro.2023.09.001

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Breast Irradiation Is Well Tolerated in Carriers of a Pathogenic ATM Variant

Andrew H. Zureick,

Dana Zakalik,

Thomas J. Quinn

et al.

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2024

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Cited by 2 publications

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Breast cancer and ATM mutations: treatment implications

Seca,

Narod

2024

Hered Cancer Clin Pract

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Genetic testing for breast cancer predisposing genes has expanded beyond BRCA1 and BRCA2 and now includes panels of 20 or more genes. It is now recommended that all women diagnosed with breast cancer at age 65 or below be offered testing for an extended gene panel. The rationale for testing includes personalizing the management of breast cancer according to the mutation found. For BRCA1 and BRCA2 carriers, the finding of a mutation has clear implications for cancer management, but for other genes, such as ATM, the management implications are less clear. Women with an ATM mutation have a lifetime risk of breast cancer of approximately 25%, the majority of which are ER-positive. The risk of ovarian cancer is approximately 5%. It is not yet clear how the identification of an ATM mutation in a patient newly diagnosed with breast cancer should impact on her treatment and follow-up. At present, these women are treated in the same way as women without a mutation. It is important that large prospective studies be conducted looking at various treatment modalities in women with breast cancer and an ATM mutation in order to optimize outcomes.

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Breast cancer and ATM mutations: treatment implications

Seca,

Narod

2024

Hered Cancer Clin Pract

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Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report

Di Filippo,

Tallone,

Muraca

et al. 2024

IJMS

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Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that childhood cancer survivors (CCSs) may exhibit immunological abnormalities potentially linked to an underlying IEI, along with a well-known increased risk of subsequent malignancies due to prior cancer treatments. We describe a patient with two composite heterozygous pathogenic variants in the interleukin-2-inducible T-cell kinase (ITK) gene and a history of multiple tumors, including recurrent Epstein–Barr virus (EBV)-related nodular sclerosis and Hodgkin’s lymphoma (NSHL), associated with unresponsive multiple hand warts, immune thrombocytopenia, and an impaired immunological profile (CD4+ lymphocytopenia, memory B-cell deficiency, reduction in regulatory T-cells, and B-cell- and T-cell-activated profiles). In our case, ITK-related immune dysregulation and prior exposure to oncological treatments seem to have simultaneously intervened in the same individual, leading to the development of a unique clinical profile. It is essential to raise awareness of the two-way association between immune dysregulation disorders and multiple tumors.

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Breast Irradiation Is Well Tolerated in Carriers of a Pathogenic ATM Variant

Cited by 2 publications

References 20 publications

Breast cancer and ATM mutations: treatment implications

Breast cancer and ATM mutations: treatment implications

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report

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