刘德媛, 徐晔, 李文林, 欧阳涛, 李金锋, 王天峰, 范照青, 范铁, 林本耀, 解云涛. DNA修复基因XRCC1基因多态性与乳腺癌临床病理参数的相关性[J]. 中国肿瘤临床, 2008, 35(13): 752-755,760.
引用本文: 刘德媛, 徐晔, 李文林, 欧阳涛, 李金锋, 王天峰, 范照青, 范铁, 林本耀, 解云涛. DNA修复基因XRCC1基因多态性与乳腺癌临床病理参数的相关性[J]. 中国肿瘤临床, 2008, 35(13): 752-755,760.
LIU Deyuan, XU Ye, LI Wenlin, OUYANG Tao, LI Jinfeng, WANG Tianfeng, FAN Zhaoqing, FAN Tie, LIN Benyao, XIE Yuntao. Association of DNA Repair Gene XRCC1 Polymorphisms with Clinicopathologic Characteristics in Chinese Women with Breast Cancer[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2008, 35(13): 752-755,760.
Citation: LIU Deyuan, XU Ye, LI Wenlin, OUYANG Tao, LI Jinfeng, WANG Tianfeng, FAN Zhaoqing, FAN Tie, LIN Benyao, XIE Yuntao. Association of DNA Repair Gene XRCC1 Polymorphisms with Clinicopathologic Characteristics in Chinese Women with Breast Cancer[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2008, 35(13): 752-755,760.

DNA修复基因XRCC1基因多态性与乳腺癌临床病理参数的相关性

Association of DNA Repair Gene XRCC1 Polymorphisms with Clinicopathologic Characteristics in Chinese Women with Breast Cancer

  • 摘要: 目的 :研究XRCC1基因Arg194Trp和Arg399Gln多态性与中国女性乳腺癌临床病理参数的关系,探讨其在乳腺癌预后中的潜在意义。 方法 :采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对250例原发性乳腺癌患者进行XRCC1基因Arg194Trp、Arg399Gln多态性分析,用Pearsonχ2检验分析基因型与临床病理特征的关系。 结果 :XRCC1基因Arg194Trp和Arg399Gln多态性与乳腺癌患者的月经状态、肿瘤大小、腋窝淋巴结转移、TNM分期、雌激素受体均无显著相关性(P>0.05)。但该多态位点与乳腺癌患者的孕激素受体(PR)状态和C-erbB2蛋白表达显著相关。携带194纯合突变型的患者PR阴性率(81.0%)显著高于携带194野生型和杂合型患者(55.4%),(P=0.034);携带399纯合突变型的患者C-erbB2蛋白表达阳性率(61.1%)显著高于携带399野生型和杂合型的患者(29.3%),(P=0.006)。 结论 :PR阴性和(或)C-erbB2高表达的乳腺癌患者常提示预后不良。XRCC1基因多态性与PR阴性或C-erbB2高表达显著相关,提示携带XRCC1纯合突变(194或399)乳腺癌患者可能预后不良。

     

    Abstract: Objective : To investigate the correlation of the polymorphisms in DNA repair gene XRCC1 (Arg194Trpand Arg399Gln) with clinicopathologic characteristics in Chinese women with breast cancer. Methods : Thepolymorphisms of XRCC1 were detected by PCR-restriction fragment length polymorphism assay(PCR-RFLP) in 250 primary breast cancer patients. Results : The polymorphisms of XRCC1 were not significantly associated with clinical stage, tumor size, axillary lymph node involvement, estrogen receptor status ormenopausal status (P>0.05). However, patients homozygous for the variant at XRCC1 position 194 weremore likely to have progesterone receptor (PR)-negative tumors than patients with the homozygous wild-typeor heterozygous genotype (81.0% vs. 55.4%, P=0.034). Moreover, patients homozygous for the variant at XRCC1 position 399 had a higher level of C-erbB2 overexpression in the tumors than that found in patients withthe homozygous wild-type or heterozygous genotype (61.1% vs. 29.3%, P=0.006). Conclusion : Breast cancerpatients homozygous for the variant genotype at XRCC1 position 194 or 399 may have an unfavorable clinicaloutcome.

     

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