MDM2启动子309位点多态性与乳腺癌易感性关系的Meta分析

[目的]综合评价MDM2（routine double minute2）基因启动子309位点多态性与乳腺癌易感性的关系。[方法]检索中国医学文献数据库和PubMed中MDM2基因SNP309与乳腺癌易感性关系的病例对照研究,并用Meta分析的方法合并SNP309与乳腺癌易感性OR值。然后进行其中有家族史的乳腺癌亚组分析,敏感性分析和文献的发表偏倚检验。[结果]Meta分析共纳入10篇文献,乳腺癌家族史组有3篇;累计病例7535例,对照8272例,G等位基因相对于T等位基因0R值为1．01（95％CI：0．96～1．06）。乳腺癌家族史组G等位基因相对于T等位基因OR值为1．06（95％CI：0．94～1．19）。[结论]MDM2基因309T〉G多态与乳腺癌易感性无统计学意义。     

GPX1的198位点多态性与肺癌和乳腺癌易感性的关系

[目的]探索和研究谷胱甘肽过氧化酶(GPX1)的198号位点的多态性与肺癌和乳腺癌易感性之间的关系。[方法]收集2007年12月31日前有关GPX1基因198位点多态性与肺癌和乳腺癌易感性关系的病例对照文献,进行Meta分析。[结果]通过文献检索和筛选,共得到10篇文献。在Meta分析中肺癌和乳腺癌的合并OR值(杂合型加上突变纯合型对比于野生纯合型)分别为1.35和1.06,95%可信区间分别为(0.92～1.17)和(0.91～2.01)。[结论]GPX1198位点多态性和乳腺癌易感性无关;但是GPX1198位点多态性和肺癌易感性有关,Lue198基因型携带者比其他人多35%的肺癌发生概率。     

中国人群COMT Val158Met基因多态性与乳腺癌易感性Meta分析

目的：系统评价中国人群儿荼酚氧位甲基转移酶（catechol-O-methyltransferase,COMT）Vall58Met基因多态性与乳腺癌易感性的关系。方法：在PubMed、MEDLINE、webofScience、Embase、中国期刊全文数据库（CJFD）及万方数据库中检索1999-10-01-2012-01-01发表的所有有关中国人群COMTVall58Met基因多态性与乳腺癌易感性关系的相关文献,并按STREGA原则对文献进行筛选、评价。纳入文献均为病例对照研究,对照群体基因型分布均符合H-W遗传平衡定律。应用Stata 12．0软件进行Meta分析,计算合并0R值及95％CI,并进行敏感性分析和发表偏倚的估计。结果：按照入选标准,有11项病例对照研究纳入,包括乳腺癌患者3184例,健康对照4065例。Meta分析结果显示,与基因型Val／Val（GG）、Val／Met（GA）比较,基因型Met／Met（AA）均增加中国人群罹患乳腺癌的风险[OR=1．55,95％CI：1.03～2．33,P=0．035;OR-1．63,95％CI：1．10～2．42,P=0．015];在隐性效应模型（Met／Met／vs Val／Val＋Val／Met）中,基因型Met／Met（AA）增加中国人群罹患乳腺癌的风险,0R-1．59,95％CI：1．07～2．36,P=0．021。与等位基因Val（G）比较,等位基因Met（A）不增加中国人群罹患乳腺癌的风险,OR=1．12,95％CI：0．96～1．32,P=0．157。结论：COMTVall58Met基因多态性与中国人群乳腺癌易感性相关,基因型Met／Met（AA）增加中国人群罹患乳腺癌的风险。     

XRCC1 Arg399Gln位点多态性与乳腺癌易感性的Meta分析

[目的]评估X射线交叉互补修复基因1(X-ray repair cross complementing protein 1,XRCC1)基因Arg399Gln位点单核苷酸多态性与高加索及亚洲人群乳腺癌(breast cancer,BC)易感性的关系。[方法]检索Pub Med、Embase、中国期刊全文数据库(CNKI)、万方数据库、中国生物医学文献数据库(CBM)和中文科技期刊全文数据库(VIP)等数据库,获取有关XRCC1 Arg399Gln位点多态性与高加索及亚洲人群乳腺癌易感性关系的病例对照研究的资料,以病例组及对照组XRCC1 Arg 399Gln等位基因分布的比值比(OR)为效应指标,应用Meta分析软件Review Manager(version 5.0.10)对各研究原始数据进行统计处理及异质性检验,计算合并OR值及其95%可信区间。[结果 ]共纳入24项病例对照研究,包括15151例乳腺癌患者和17179例对照。Meta分析结果显示,XRCC1 Arg399Gln位点Gln/Gln突变型可能会增加亚洲人群乳腺癌的发病风险[Gln/Gln vs.Arg/Arg亚洲组:OR=1.20(95%CI:1.03~1.39),P=0.02;Gln/Gln vs.Arg/Arg+Arg/Gln亚洲组:OR=1.20(95%CI:1.04~1.38),P=0.01。Gln/Gln vs.Arg/Arg OR=1.01(95%CI:0.94~1.09),Z=0.35,POR=0.73;Gln/Gln+Arg/Gln vs.Arg/Arg OR=1.02(95%CI:0.95~1.09,Z=0.58,POR=0.56;Gln/Gln vs.Arg/Arg+Arg/Gln OR=1.01(95%CI:0.95~1.08),Z=0.33,POR=0.74)。[结论]XRCC1 Arg399Gln位点Gln/Gln突变型可能与亚洲人群乳腺癌易感性相关。     

XPC 基因 rs2228000（C/T）多态性与乳腺癌易感性的Meta分析

目的：定量探讨着色性干皮病 C 组（XPC）基因 rs2228000（C ／T）多态性与乳腺癌易感性之间的关系。方法通过计算机检索 PubMed、Cochrane Library、中国生物医学文献数据库（CBM）、万方医药期刊全文数据库、中国期刊全文数据库（CNKI）及维普数据库（VIP）,检索时间截至2015年12月,搜集有关 XPC rs2228000（C ／T）位点多态性与乳腺癌风险的病例对照研究。采用 STATA 12．0软件进行结果分析,计算比值比（OR）和95％CI。结果总共纳入8篇文献,包括9个病例对照研究（3850例乳腺癌患者和5047例健康对照）。纯合子模型（TT vs．CC：OR ＝1．28,95％CI 为1．08～1．52,Z ＝2．80, P ＝0．005）和隐性模型（TT vs．TC ＋CC：OR ＝1．23,95％CI 为1．05～1．43,Z ＝2．64,P ＝0．008）中 XPC rs2228000（C ／T）多态性与乳腺癌易感性有关,而等位基因模型、杂合子模型、显性基因模型中 XPC rs2228000（C ／T）位点多态性与乳腺癌风险无关（P ＞0．05）。在亚洲人群和 PCR-RFLP 亚组的4种基因模型中,XPC rs2228000（C ／T）多态性与乳腺癌易感性有关（T vs．C：OR ＝1．21,95％CI 为1．05～1．40, Z ＝2．63,P ＝0．009;TT vs．CC：OR ＝1．55,95％CI 为1．13～2．13,Z ＝2．70,P ＝0．007;TT ＋TC vs．CC：OR ＝1．26,95％CI 为1．02～1．55,Z ＝2．19,P ＝0．028;TT vs．TC ＋CC：OR ＝1．39,95％CI 为1．04～1．87, Z ＝2．23,P ＝0．026）。基于对照组来源的亚组分析,社区来源的纯合子模型中 XPC rs2228000（C ／T）多态性与乳腺癌发病风险有关（TT vs．CC：OR ＝1．27,95％CI 为1．02～1．57,Z ＝2．16,P ＝0．031）。结论XPC rs2228000（C ／T）多态性可能与乳腺癌风险有关,尤其在亚洲人群中,基因型 TT 可能增加乳腺癌发病风险。     

中国人群IL-1基因多态性与胃癌发生易感性Meta分析

目的:探讨中国人群IL-1基因多态性与胃癌发生的相关性.方法:通过检索MEDLINE、Embase、Cancerlit、AACR(American association for cancer re-search)、中国生物医学文献数据库(CBM-disc)、中国知网、万方数据库等数据库,纳入16个关于IL-1-31,IL-1B-511,和IL-1RN基因多态性和胃癌相关性的病例对照研究.采用RevMan 4.2.2统计软件进行文献的异质性检验并计算合并效应优势比(OR)和95%可信区间(CI).结果:经筛选纳入16个病例一对照研究,其中包舍2 099例胃癌病例和2 371个正常对照,IL-1B-31C,IL-1B-511T和IL-1 RN 3个位点的OR和C1分剐是[0R=0.98,95%CI(0.72～1.34);P=0.89]、[0R=1.45,95%CI(1.00～2.09);P=0.05]、[0R=1.61,95%CI(0.97～2.67);P=0.07].结论:在中国人群中,IL-1B-31和IL-1RN两位点基因多态性与胃癌发生不存在关联性,IL-1B-511位点基因多态性与胃癌发生易感性相关联.     

XRCC3Thr241Met基因多态性与胃癌易感性的Meta分析

目的:综合评价X线修复交叉互补基因3(X-ray repair cross-complementing group 3,XRCC3)Thr241 Met单核苷酸基因多态性与胃癌易感性的关系.方法:计算机检索中国期刊全文数据库(CNKI)、中国生物医学文献数据库(CBM)、中文科技期刊全文数据库(VIP)、万方数据库、PubMed、Cochrane Library,收集国内外公开发表的关于XRCC3 Thr241Met基因多态性与胃癌易感性的病例-对照研究相关文献.采用Stata 12.0软件进行统计学分析,计算合并比值比(odd ratio,OR)及95％可信区间(confidence interval,CI).结果:共纳入12篇文献,从总的效应量分析,XRCC3 Thr241 Met基因多态性与胃癌易感性间无明显相关性,按种族进行亚组分析,提示在亚洲人群中隐性模型(MM vs MT +TT:OR =2.59,95％ CI:1.98 ～ 3.39,P＜0.001)、等位模型(Mvs T:OR=1.57,95％ CI:1.05～2.35,P=0.028)、纯合子模型(MM vs TT:OR =3.39,95％ CI:2.17～5.31,P＜O.001)均具有统计学意义.基于对照组来源及是否符合Hardy-Weinberg遗传平衡进行的亚组分析结果提示突变型与野生型无明显统计学意义.结论:在亚洲人群中,XRCC3 Thr241 Met基因多态性可能与胃癌易感性有关.     

GPX1 Pro198Leu基因多态性与肿瘤易感性的Meta分析

目的:探讨GPX1Pro198Leu基因多态性与肿瘤易感性关系。方法:利用万方、维普、CNKI、Pubmed和Web ofScience检索1990-01-2011-01公开发表的关于谷胱甘肽过氧化物酶1(GPX1)Pro198Leu基因多态性与肿瘤易感性关系的文献,利用Stata11计算纳入文献的合并值及95%可信区间(95%CI),并依据入选文献的研究人群来源和肿瘤类型进行亚组分析。结果:纳入30篇文献共33项研究,累积病例13 280例,对照16 946名。经Meta整体分析GPX1Pro198Leu基因多态性与肿瘤易感性无关。亚组分析显示,亚洲人中携带TC基因型者患肿瘤的危险性是CC基因型携带者的1.55倍,T等位基因是C等位基因的1.48倍。TC和TT基因型携带者患膀胱癌的危险性是CC基因型的1.52和9.7倍。结论:GPX1Pro198Leu基因多态性与亚洲人肿瘤易感性相关,与高加索人、非洲人肿瘤易感性可能无关;GPX1Pro198Leu基因多态性与膀胱癌易感性相关,与乳腺癌、肺癌、结直肠癌等无关。     

雌激素受体基因ESR1多态性与乳腺癌易感性的关系

目的：研究雌激素受体α（ESR1）基因单核苷酸多态性（SNPs）与乳腺癌易感性的关系。方法：运用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）分析的方法检测193例中国汉族女性乳腺癌患者和71名正常女性对照者ESR1基因上rs11155816位点的基因型,以SPSS 11.0软件卡方检验处理数据。结果：rs11155816位点等位基因频率符合Hardy-Weinberg遗传平衡定律。rs11155816位点的等位基因及基因型与患者肿瘤位置及是否存在远处转移相关,差异有显著性（P〈0.05）;与年龄、大小、组织学类型、受体表达无关。rs11155816位点等位基因及基因型频率在乳腺癌人群与正常对照者间分布差异有显著性,乳腺癌人群中等位基因A频率高于正常人群（23.8%比15.5%,P〈0.05）。结论：rs11155816位点基因的多态性与乳腺癌患者的肿瘤位置和远处转移相关,等位基因A携带者乳腺癌发病风险较高。     

雌激素受体基因ESR1多态性与乳腺癌易感性的关系

目的:研究雌激素受体α(ESR1)基因单核苷酸多态性(SNPs)与乳腺癌易感性的关系。方法:运用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)分析的方法检测193例中国汉族女性乳腺癌患者和71名正常女性对照者ESR1基因上rs11155816位点的基因型,以SPSS 11.0软件卡方检验处理数据。结果:rs11155816位点等位基因频率符合Hardy-Weinberg遗传平衡定律。rs11155816位点的等位基因及基因型与患者肿瘤位置及是否存在远处转移相关,差异有显著性(P<0.05);与年龄、大小、组织学类型、受体表达无关。rs11155816位点等位基因及基因型频率在乳腺癌人群与正常对照者间分布差异有显著性,乳腺癌人群中等位基因A频率高于正常人群(23.8%比15.5%,P<0.05)。结论:rs11155816位点基因的多态性与乳腺癌患者的肿瘤位置和远处转移相关,等位基因A携带者乳腺癌发病风险较高。     

IGF1R和IGFBP3在肺鳞癌中的表达及其临床意义

目的:检测IGF1R、IGFBP3在肺鳞癌组织中的表达,并探讨其在肺鳞癌发生发展中的作用及其临床意义。方法:用免疫组化二步法检测246例肺鳞癌术后组织与40例癌旁正常组织中IGF1R、IGFBP3的表达情况,并分析二者的相关性及与临床病理特征和预后的关系。结果:IGF1R在肺鳞癌组织中的阳性表达明显高于癌旁正常组织,其表达率分别为54.07%、32.5%,IGFBP3在肺鳞癌组织中的阳性表达明显低于癌旁正常组织,其表达率分别为61.79%、87.5%,差异具有统计学意义（P＜0.05）。IGF1R的表达与淋巴结转移正相关（P＜0.05）,IGFBP3的表达与肺癌的TNM分期、淋巴结转移负相关（P＜0.01）,而与其他临床病理参数无关（P＞0.05）。IGF1R阳性表达组患者生存期明显短于IGF1R阴性表达组患者,IGFBP3阳性表达组患者生存期明显长于IGFBP3阴性表达组患者,差异有统计学意义（P分别为<0.001和=0.001）。Cox单因素分析显示TNM分期、淋巴结转移、IGF1R及IGFBP3的表达均与预后相关,将TNM分期、淋巴结转移、IGF1R及IGFBP3的表达进行Cox回归多因素分析,结果显示TNM分期、IGF1R及IGFBP3的表达均为肺鳞癌患者的独立预后因子。IGF1R、IGFBP3在肺鳞癌组织中表达呈负相关（r=-0.204,P＜0.001）。结论:IGF1R、IGFBP3参与了肺鳞癌的发生、发展,并且二者均为肺鳞癌的独立预后因子。有望成为分子靶向治疗的新靶点。     

胃癌患者血清IGFBP3和Neuropilin-1的表达水平及其临床意义

目的 探讨胃癌患者血清胰岛素样生长因子结合蛋白3(IGFBP3)和神经纤毛蛋白-1(Neuropilin-1)水平及其与临床病理参数间的相关性.方法 选取胃癌患者98例,同期收集体检者50例为健康对照组.检测2组研究对象血清IGFBP3和Neuropilin-1水平;分析胃癌组患者血清IGFBP3和Neuropilin-1水平与胃癌临床病理参数间的相关性;比较随访期间存活组与死亡组患者间血清IGFBP3和Neuropilin-1表达.结果 与对照组比较,胃癌组患者血清IGFBP3水平明显减少而Neuropilin-1水平明显升高(P＜0.01).血清IGFBP3和Neuropilin-1的表达与胃癌患者的年龄、性别、大小、肿瘤位置无显著性相关(P＞0.05),而与TNM分期、分化程度以及淋巴结转移呈显著性相关(P＜0.01).所有患者1年期随访结果:33例死亡,65例存活;死亡组患者入院时血清IGFBP3水平明显低于存活组,而Neuropilin-1表达明显高于存活组,比较差异有统计学意义(P＜0.01).结论 胃癌患者血清IGFBP3水平明显降低而Neuropilin-1的水平明显增高,与胃癌的恶性程度关系密切,也可能是临床评价胃癌患者预后的重要指标.     

Induction of Apoptosis by IGFBP3 Overexpression in Hepatocellular Carcinoma Cells

Background: The insulin-like growth factor (IGF) system comprises a group of proteins that play key rolesin regulating cell growth, differentiation, and apoptosis in a variety of cellular systems. The aim of this studywas to investigate the role of insulin-like growth factor binding protein 3 (IGFBP3) in hepatocellular carcinoma.Materials and Methods: Expression of IGF2, IGFBP3, and PTEN was analyzed by qRT-PCR. Lentivirus vectorswere used to overexpress IGFBP3 in hepatocellular carcinoma cell (HCC) lines. The effect of IGFBP3 onproliferation was investigated by MTT and colony formation assays. Results: Expression of IGF2, IGFBP3, andPTEN in several HCC cell lines was lower than in normal cell lines. After 5-aza-2’-deoxycytidine/trichostatin Atreatment, significant demethylation of the promoter region of IGFBP3 was observed in HCC cells. Overexpressionof IGFBP3 induced apoptosis and reduced colony formation in HUH7 cells. Conclusions: Expression of IGF2,IGFBP3, and PTEN in several HCC cell lines was lower than in normal cell lines. After 5-aza-2’-deoxycytidine/trichostatin A treatment, significant demethylation of the promoter region of IGFBP3 was observed in HCCcells. Overexpression of IGFBP3 induced apoptosis and reduced colony formation in HUH7 cells.     

IGF1, IGFBP1, and IGFBP3 genes and mammographic density: The Multiethnic Cohort

Insulin‐like growth factor‐I (IGF‐I) has mitogenic properties and stimulates cell growth. In this analysis, we investigated the relation between common genetic variation in IGF1, IGFBP1, and IGFBP3, and mammographic density among 819 women of Hawaiian, European, and Japanese ancestry from the Multiethnic Cohort Study. Mammographic density was assessed using a quantitative computer‐assisted method. Previously identified tag single nucleotide polymorphisms (SNPs) for IGF1 (26 tag SNPs) and IGFBP1/IGFBP3 (22 tag SNPs) were genotyped among the 819 women. Mixed models were conducted to evaluate the associations between genetic variation and mammographic density. Two SNPs were borderline statistical significantly associated with mammographic density: rs35539615 on IGFBP1 (p = 0.05) and rs2453839 on IGFBP3 (p = 0.01). Rs35767on IGF1 (p = 0.03) was also associated with mammographic density, although in opposite direction of what was expected from previous findings with IGF‐I levels. The majority of SNPs were, however, not associated with mammographic density. Analyses stratified by ethnicity showed similar results as the overall analyses for IGF1 and IGFBP1. However, for 4 SNPs in the IGFBP3 gene, the minor allele was associated with lower mammographic density in Japanese Americans and higher mammographic density in Caucasians. Given the large number of SNPs tested and the few borderline significant results, we only found weak evidence that genetic variations in IGFBP1 or IGFBP3 may be related to mammographic density. Ethnicity may modify these relations.     

CYP1A1和GSTM1基因多态性与肺癌易感性的Meta分析

目的探讨CYP1A1和GSTM1基因多态性与个体肺癌易感性的关系。方法全面检索相关文献,应用Meta分析方法对各研究进行数据的合并与分析。结果共8篇文献入选,累计肺癌病例1067人,对照1416人,分别对CYP1A1*A和GSTM1-、CYP1A1*B/C和GSTM1+、CYP1A1*B/C和GSTM1-联合基因型进行统计分析。异质性检验χ2值分别为6.43、8.83与9.63,P>0.05,文献有同质性,各合并OR及95%CI分别为1.36(1.09~2.77)、1.65(1.26~2.15)和2.01(1.57~2.59)。结论CYP1A1和GSTM1突变基因型为罹患肺癌的易感基因型,且两者存在协同作用,在肿瘤防治方案中应加以重视从而采取相应措施达到有效预防肿瘤的目的。     

Prostate Cancer Risk in Relation to a Single Nucleotide Polymorphism in the Insulin-like Growth Factor-binding Protein-3 (IGFBP3) Gene: a Meta-analysis

Insulin-like growth factor-binding protein-3 (IGFBP3) has been identified as a putative tumor suppressorwith multifunctional roles in the IGF axis. Recently, there have been a growing body of studies investigating therelation between the IGFBP3 A-202C polymorphism, circulating IGFBP3 and prostate cancer risk, but theiroutcomes varied leading to controversy. Hence, it is necessary to perform a meta-analysis covering all eligiblestudies to shed a light on the association of IGFBP3 A-202C and cancer risk. Finally, we included a total of 11relevant articles between 2003 and 2010 covering 14 case-control studies including 9,238 cases and 8,741 controlsfor our analysis. Our results showed that A-202C was a marginal risk factor of prostate cancer (allele contrast:OR=1.08, 95% CI :1.01-1.16; dominant model: OR=1.11, 95% CI :1.01-1.22; heterozygote codominant model:OR=1.11, 95% CI :1.03-1.18; homozygote contrast: OR=1.19, 95% CI :1.03-1.37). Stratification analysis revealedthat sample size and control source were two major heterogeneous meta-factors especially in the recessive model(source: Population-based control group :p=0.30,I2=16.7%, Hospital-based control group: p=0.20, I2=30.3%;sample size: Small: p=0.22,I2= 32.8%, Medium: p=0.09,I2= 48%, Large p=0.60,I2=0.0%); However, contraryto previous findings, no significance was found in racial subgroups. No significant publication bias was foundin our analysis. Considering the robustness of the results and the discrepancy among some studies, there mightbe some unsolved confounding factors, and further more critical large studies are needed for confirmation.     

Genetic variation in IGF1, IGF-1R,IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study

Disruption of the balance of IGF (Insulin like growth factor) pathway constituents has been implicated in the etiology and progression of breast and other cancers. We hypothesized that genetic polymorphisms in IGF system members may be associated with breast cancer survival and evaluated this hypothesis in a cohort of 1,455 women diagnosed with breast cancer between 1996 and 1998 in Shanghai, China. Nineteen functional or potentially functional polymorphisms were evaluated in the IGF-1, IGF-1R, IGFALS, and IGFBP3 genes. Disease recurrence and vital status were obtained with a median follow-up time of 7.1 years. Cox proportional hazards models were used to estimate hazard ratios (HR) and 95% confidence intervals (CI). Overall, no significant association was noted between any of the 19 polymorphisms and survival. However, subgroup analyses demonstrated apparent interactions between menopausal status and survival for several (Single nucleotide polymorphism) SNPs in the IGF-1R and IGFBP3 genes. Carriers of the A/G or G/G genotypes (rs951715) in the IGF-1R gene had an increased risk of death among post-menopausal women (HR = 1.7, 95% CI = 1.1–2.7). Significant associations with breast cancer survival in pre-menopausal women were found for two IGFBP3 polymorphisms (rs2854744 and rs3110697), with an additional polymorphism (rs6413441) reaching borderline significance (P = 0.05). Hazard ratios for overall survival among pre-menopausal women were 1.5 (95% CI = 1.1–2.0) for the C/T–T/T genotypes (rs3110697), 1.4 (95% CI = 1.0–1.9) for the A/C–C/C genotypes (rs2854744), and 1.4 (95% CI = 1.0–1.9) for the N/A–A/A genotypes (rs6413441). Taken together, these data suggest that polymorphisms in the IGF-1R and IGFBP3 genes may be associated with altered survival among subgroups of breast cancer patients defined by menopausal status.     

Association of XRCC1 Gene Polymorphisms with Breast Cancer Susceptibility in Saudi Patients

Background: X-ray repair cross-complementing group 1 (XRCC1) plays a key role in the base excision repairpathway, as a scaffold protein that brings together proteins of the DNA repair complex. XRCC1 is reported tobe a candidate influence on cancer risk. The aim of our present study was to assess the association of rs1799782(Arg194Trp) and rs25487 (Arg399Gln) XRCC1 gene polymorphisms with breast cancer in the Saudi population.Materials and Methods: The two SNP’s were analyzed in breast cancer patients and healthy control subjects.Genotypes were determined by TaqMan SNP genotype analysis technique and data were analyzed using Chisquareor t test and logistic regression analysis by SPSS16.0 software. Results and Conclusions: Results showedthat rs1799782 significantly increased susceptibility to breast cancer with Arg/Trp, Arg/Trp+Trp/Trp genotypesand at Trp allele overall study. It also increased risk of breast cancer in older age patients (above 48) and withthe ER positive category. XRCC1rs25487 (Arg399Gln) did not showed any significant association. In conclusionthe XRCC1rs1799782 polymorphism may be involved in the etiology of breast cancer in the Saudi population.Confirmation of our findings in larger populations of different ethnicities is warranted.