Podralska Marta, Dzikiewicz-Krawczyk Agnieszka, Mosor Maria, Żurawek Magdalena, Iżykowska Katarzyna, Słomski Ryszard, Rydzanicz Małgorzata, Gabryel Piotr, Dyszkiewicz Wojciech, Ziółkowska-Suchanek Iwona
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Arch Med Sci. 2020 Apr 8;17(5):1158-1163. doi: 10.5114/aoms.2020.94155. eCollection 2021.
The inactivation of both alleles of the gene leads to ataxia-telangiectasia syndrome, whereas carriers of monoallelic mutations in the gene are associated with increased risk of different types of cancer. Three substitutions in the gene (c.6095G>A, c.7630-2A>C, c.5932G>T) are the most common mutations causing ataxia-telangiectasia among Polish patients. The aim of this study was to determine whether these ATM mutations are associated with increased risk of tobacco-related cancers.
783 Polish patients with tobacco-related cancers were included in the study (468 with lung cancer, 153 with a single laryngeal cancer, 86 with multiple primary tumors localized in the larynx and 76 multiple primary tumors localized in the head or neck). The control group consisted of 464 healthy subjects from the Polish population. Three ATM mutations - c.5932G>T, c.6095G>A, c.7630-2A>C - were tested among selected patients. Molecular analyses were performed using high resolution melting analysis and restriction fragment length polymorphism.
In the present study, we detected only one mutation, c.7630-2A>C, and no carriers of c.5932G>T, c.6095G>A mutations in the gene among Polish patients with tobacco-related cancers. A patient with c.7630-2A>C mutation was diagnosed with lung adenocarcinoma, the most common type of lung cancer. One carrier of c.6095G>A mutation was found in the control group.
The results indicate that the studied ATM variants do not seem to be associated with tobacco-related cancers in Poland.
该基因的两个等位基因失活会导致共济失调毛细血管扩张症综合征，而该基因单等位基因突变的携带者与患不同类型癌症的风险增加有关。该基因中的三个替换（c.6095G>A、c.7630-2A>C、c.5932G>T）是波兰患者中导致共济失调毛细血管扩张症最常见的突变。本研究的目的是确定这些ATM突变是否与烟草相关癌症的风险增加有关。
本研究纳入了783名患有烟草相关癌症的波兰患者（468例肺癌患者、153例单发喉癌患者、86例喉部多发原发性肿瘤患者以及76例头颈部多发原发性肿瘤患者）。对照组由464名波兰健康受试者组成。在选定患者中检测了三个ATM突变——c.5932G>T、c.6095G>A、c.7630-2A>C。使用高分辨率熔解分析和限制性片段长度多态性进行分子分析。
在本研究中，我们仅检测到一个突变c.7630-2A>C，在患有烟草相关癌症的波兰患者中未发现c.5932G>T、c.6095G>A突变的携带者。一名携带c.7630-2A>C突变的患者被诊断为肺腺癌，这是最常见的肺癌类型。在对照组中发现一名c.6095G>A突变的携带者。
结果表明，在波兰，所研究的ATM变体似乎与烟草相关癌症无关。
