Elisabetta Falvo et al., SNPs in DNA repair or oxidative stress genes and late subcutaneous fibrosis in patients following single shot partial breast irradiation. Journal of Experimental & Clinical Cancer Research

Elisabetta Falvo1, Lidia Strigari2, Gennaro Citro1, Carolina Giordano3, Genoveva Boboc3, Fabiana Fabretti3, Vicente Bruzzaniti2, Luca Bellesi2, Paola Muti4,5, Giovanni Blandino6 and Paola Pinnarò3

1Laboratory of Pharmacokinetic/Pharmacogenomic, Regina Elena National Cancer Institute
2Laboratory of Medical Physics and Expert Systems, Regina Elena National Cancer Institute
3Department of Radiation Oncology, Regina Elena National Cancer Institute
4Department of Oncology Juravinski Cancer Center, McMaster University Hamilton
5Department of Public Health, Harvard University
6Translational Oncogenomic, Regina Elena National Cancer Institute


The aim of this study was to evaluate the potential association between single nucleotide polymorphisms related response to radiotherapy injury, such as genes related to DNA repair or enzymes involved in anti-oxidative activities. The paper aims to identify marker genes able to predict an increased risk of late toxicity studying our group of patients who underwent a Single Shot 3D-CRT PBI (SSPBI) after BCS (breast conserving surgery).

A total of 57 breast cancer patients who underwent SSPBI were genotyped for SNPs (single nucleotide polymorphisms) in XRCC1, XRCC3, GST and RAD51 by Pyrosequencing technology. Univariate analysis (ORs and 95% CI) was performed to correlate SNPs with the risk of developing ? G2 fibrosis or fat necrosis.

A higher significant risk of developing ? G2 fibrosis or fat necrosis in patients with: polymorphic variant GSTP1 (Ile105Val) (OR = 2.9; 95%CI, 0.88-10.14, p = 0.047).

The presence of some SNPs involved in DNA repair or response to oxidative stress seem to be able to predict late toxicity.

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