The Ataxia–Telangiectasia Mutated(ATM)gene is implicated in DNA double-strand break repair. Controversies in clinical radiosensitivity remain known for monoallelic carriers of theATMpathogenic variant (PV). An evaluation of the single-nucleotide polymorphism (SNP) rs1801516 (G-A) showed different results regarding late subcutaneous fibrosis after breast radiation therapy (RT). The main objective of this study was to evaluate acute and late toxicities in carriers of a rareATMPV or predicted PV and in carriers of minor allele A of rs1801516 facing breast RT. Fifty women with localized breast cancer treated with adjuvant RT between 2000 and 2014 at Institut Curie were selected. Acute and late toxicities in carriers of a rare PV or predicted PV (n= 9), in noncarriers (n = 41) and in carriers of SNP rs1801516 (G-A) (n = 8), were examined. The median age at diagnosis was 53 years old and 82% of patients had an invasive ductal carcinoma and 84% were at clinical stage I–IIB. With a median follow-up of 13 years, no significant difference between carriers and noncarriers was found for acute toxicities (p> 0.05). The same results were observed for late toxicities without an effect from the rs1801516 genotype on toxicities. No significant difference in acute or late toxicities was observed between rareATMvariant carriers and noncarriers after breast RT for localized breast cancer.
共济失调毛细血管扩张症突变（ATM）基因参与DNA双链断裂修复。ATM致病性变异（PV）单等位基因携带者的临床放射敏感性争议仍存。对单核苷酸多态性（SNP）rs1801516（G-A）的评估显示，其在乳腺癌放疗（RT）后晚期皮下纤维化方面存在不同结果。本研究主要目的是评估携带罕见ATM PV或预测PV者，以及携带rs1801516次要等位基因A者在接受乳腺癌放疗时的急性和晚期毒性反应。研究选取了2000年至2014年间在居里研究所接受辅助放疗的50例局限性乳腺癌女性患者。对携带罕见PV或预测PV者（n=9）、非携带者（n=41）以及携带SNP rs1801516（G-A）者（n=8）的急性和晚期毒性反应进行了分析。诊断中位年龄为53岁，82%患者为浸润性导管癌，84%处于临床I–IIB期。中位随访13年，携带者与非携带者在急性毒性反应方面未发现显著差异（p>0.05）。晚期毒性反应亦呈现相同结果，且rs1801516基因型对毒性反应无影响。对于局限性乳腺癌患者，在接受乳腺癌放疗后，罕见ATM变异携带者与非携带者在急性或晚期毒性反应方面均未观察到显著差异。
Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia–Telangiectasia Mutated Variant Carriers
肿瘤(癌症)患者之家