Dear Authors,
If you believe that your paper was mistakenly rejected by other leading journals and you do not agree with final decision, the editors of Reports of Practical Oncology and Radiotherapy offer new fast track review. You may submit your manuscript to Reports of Practical Oncology and Radiotherapy together with all prior peer-reviews obtained from the other journal and your rebuttal letter. We guarantee review based decision within 72 hours from the time we will receive your manuscript.

Fast track submission process: Please submit the manuscript with all reviews and rebuttal letter by email to Dr. Michal Masternak (michal.masternak@ucf.edu) for fast review processing. To assure immediate attention the email title must to include: RPOR-fast track- Last Name First Name (of corresponding author).

Volume 24, Number 6, 2019

Increased radiation toxicity with germline ATM variant of uncertain clinical significance

Brandon T. Mullins, Gaorav Gupta

Summary:

While patients with ataxia telangiectasia are known to have increased radiation sensitivity, patients with germline heterozygous ataxia telangiectasia mutated (ATM) mutations can have widely varying functional and clinical effects, which can make management decisions difficult. With an increased prevalence of gene panel-based testing for breast cancer patients, radiation oncologists are increasingly confronted with patients who carry germline ATM variants of uncertain clinical significance. This study describes the clinical courses and outcomes of 5 breast cancer patients with varying germline heterozygous ATM mutations undergoing radiation therapy at our institution in order to provide additional knowledge of the varying clinical effects to aid future decision making. Case Series We identified 5 patients with breast cancer and varying germline heterozygous ATM mutations treated at the University of North Carolina Hospitals between 2015 and 2017. The median age at breast cancer diagnosis for the patient series was 46. Clinical effects of radiation treatment varied amongst the 5 patients. The one patient with a pathogenic ATM mutation had no increased radiation related toxicity. Of the 4 patients with ATM variants of uncertain significance, one patient had increased radiation sensitivity with Grade 3 dermatitis. All patients have remained recurrence free with a median duration of 18 months. Conclusion Our data illustrates that patients with germline heterozygous ATM mutations can have widely varying clinical effects with radiation therapy. Given the possibility of unpredictable deleterious effects, our study highlights the importance of caution and careful consideration when devising the multi-modality management strategy in these patients.

Signature: Rep Pract Oncol Radiother, 2019; 24(6) : 672-680


« back

 
INDEXED IN:

Indexed in: EMBASE®, the Excerpta Medica database, the Elsevier BIOBASE (Current Awareness in Biological Sciences) and in the Index Copernicus.

http://www.sciencedirect.com/science/journal/15071367/19/2