Radiation Therapy-Induced Toxicity in a Breast Cancer Patient With Variance of Unknown Significance in the Ataxia Telangiectasia
Case Summary
A 51-year-old woman presented in 2018 after a screening mammogram discovered asymmetry in the right subareolar region with a 15 × 13 × 14 mm mass on ultrasonography. Breast biopsies revealed triple-positive infiltrating ductal carcinoma. She had no history of collagen vascular diseases or prior radiation. Genetic testing revealed a heterozygous variance of unknown significance (VUS) in the ataxia telangiectasia (
The patient developed cutaneous symptoms, which progressed to telangiectasias and significant fibrosis (
Significant fibrosis and poor cosmesis seen following radiation.

Apical scarring of the right lung following radiation as seen on an axial view (<bold>A</bold>). Apical scarring of the right lung following radiation as seen on a coronal view (B).

Platelet-rich infusions, used for fibrosis treatment, were ineffective. The patient subsequently underwent a mastectomy.
Discussion
By facilitating DNA double-stranded breaks, ionizing radiation is known to cause damage to both malignant and nonmalignant cells. In patients with mutant
Clinical investigations attempting to assess the link between VUS and increased radiation sensitivity have been unclear, with different studies yielding contradictory results. In a study assessing 91 evaluable carriers of
However, one case series demonstrated that patients with heterozygous germline
Conclusions
The
References
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Citation
AN Desai, Nini KT, Desai GR. Radiation Therapy-Induced Toxicity in a Breast Cancer Patient With Variance of Unknown Significance in the Ataxia Telangiectasia Gene. Appl Radiat Oncol. 2023;(3):1-3.
doi:10.37549/ARO-D-23-00015
September 1, 2023