XRCC1和XRCC2的基因多态性在乳腺癌治疗中的临床意义

目的:乳腺癌是女性常见的恶性肿瘤之一，其发生发展与遗传因素十分密切，寻找与乳腺癌发生、病理、治疗及预后相关的分子标志物对于该病的治疗具有重要的指导意义。XRCC是参与DNA损伤修复的重要基因。XRCC1及XRCC2基因的多态性已被研究与多种肿瘤易感性及生物学行为有关。本实验研究XRCC1 和XRCC2 多态性与中国女性乳腺癌发病风险、临床病理（腋窝淋巴结转移状态）及预后(复发和转移)的相关性，以探讨其在乳腺癌临床治疗中的潜在价值。方法:采用PCR-RFLP方法检测60例原发性乳腺癌患者新鲜血标本中XRCC1 Arg399Gln、XRCC2 C41657T、XRCC2 G4234C多态，采用SAS 9.1.3统计软件分析基因型与乳腺癌发病风险、临床病理及预后的相关性。结果:XRCC1 Arg399Gln 不同基因型与乳腺癌的发病风险不存在统计学相关性(P>0.05)； XRCC1 Arg399Gln与乳腺癌的腋窝淋巴结转移情况及乳腺癌的远处转移、局部复发不存在相关性(P>0.05)；XRCC2 C41657T、XRCC2 G4234C 基因型与乳腺癌的发病风险均无显著相关(P>0.05)；XRCC2 C41657T C/T和T/T基因型的多态性可能与乳腺癌的腋窝淋巴结转移状态、乳腺癌的远处转移及局部复发具有相关性(P<0.05)。结论:XRCC1 Arg399Gln G/G、XRCC2 C41657T、XRCC2 G4234C 基因型可能均与乳腺癌的发病风险无关。XRCC2 C41657T C/T和T/T基因型的多态性可能与乳腺癌的腋窝淋巴结转移状态、乳腺癌的远处转移及局部复发具有相关性。

Clinical significance of gene polymorphism of XRCC1 and XRCC2 in the treatment of breast cancer

Objective:Breast cancer is the most common malignancy in women, the pathogenetic progression of which is closely related to genetic factors, looking for molecular markers, which associated with occurrence, pathology, treatment and prognosis of breast cancer, has an important guiding significance for the treatment of breast cancer. XRCC is an important gene participate in DNA damage repair. XRCC1 and XRCC2 gene polymorphisms have been studied that they are associated with the susceptibility and biological behavior of tumors. This experimental study on the relevance between XRCC1 and XRCC2 polymorphisms and the risk，clinical pathology（axillary lymph node status） and prognosis(recurrence and metastasis) of breast cancer in China, in order to explore its potential value in the clinical treatment of breast cancer.Methods:PCR-RFLP was used to detect polymorphism of XRCC1 Arg399Gln, XRCC2 C41657T, XRCC2 G4234C from fresh blood samples from 60 patients with primary breast cancer patients.Using SAS 9.1.3 statistical software analysis the relevance of genotype and the risk,clinical pathology and prognostic of breast cancer.Results:XRCC1 Arg399Gln different genotypes and risk of breast cancer may not exist correlation(P>0.05).There is no correlation between XRCC1 Arg399Gln with axillary lymph node metastasis, distant metastasis and local recurrence of breast cancer(P>0.05).XRCC2 C41657T, XRCC2 G4234C genotype are not associated with risk of breast cancer(P>0.05).XRCC2 C41657T C/T and T/T genotype polymorphism may be associated with axillary lymph node metastasis, distant metastasis and local recurrence of breast cancer(P<0.05).Conclusion:XRCC1 Arg399Gln G/G, XRCC2 C41657T, XRCC2 G4234C genotype may have nothing to do with the risk of breast cancer. XRCC2 C41657T C/T and T/T genotype polymorphism may be associated with axillary lymph node metastasis, distant metastasis and local recurrence of breast cancer.