mdrlC3435T基因多态性与卵巢癌遗传易感性关系研究

目的:探讨mdr1基因多态性与卵巢癌遗传易感性的关系.方法:采用病例对照,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析135例经病理确诊的卵巢癌病人(病例组)和146例同一地区的健康汉族女性(对照组)的mdr1C3435T基因型进行对照研究.结果:卵巢癌病例组C/C型(30.37%)明显低于对照组(47.95%),而病例组T/C型(44.44%)和T/T型(25.19%)均明显高于对照组T/C(38.35%)和T/T(13.7%),病例组和对照组各基因表型之间差异有显著统计学意义(X~2=10.930,P=0.004).卵巢癌mdr1C3435T基因纯合缺失率(25.19%)高于对照组(13.7%),差异有统计学意义(X~2=5.961,P-0.015),与对照组相比,T/T型患卵巢癌的危险度提高了2.121倍.mdr1C3435T的基因纯合缺失型和非纯合缺失型在病例组与对照组间年龄比较差异均有明显统计学意义(P<0.05),其中在50岁以上年龄段,病例组与对照组mdr1C3435T的基因纯合缺失率差异有统计学意义(X~2=4.984,P=0.026),病例组(20.41%)高于对照组(5.1%),T/T型患卵巢癌的危险度增加2.533倍.结论:mdr1C3435T基因突变可增加卵巢癌发病风险,mdr1C3435T基因多态性与卵巢癌遗传易感性密切相关.50岁以上女性,T/T型增加卵巢癌的发病风险.     

上海市闵行区2型糖尿病患者恶性肿瘤的发病状况分析

 目的  揭示上海市闵行区2型糖尿病(type 2 diabetes mellitus,T2DM)患者全癌种恶性肿瘤发病状况。方法  以上海市闵行区2004—2014年各社区卫生服务中心进行登记管理的新发T2DM患者为研究对象,采用回顾性队列研究,于上海市恶性肿瘤登记系统追踪糖尿病患者恶性肿瘤的发病情况,计算T2DM患者的恶性肿瘤发病率及与当地一般人群的恶性肿瘤标准化发病比(standardized incidence ratio,SIR)和95%CI。 结果  男性和女性T2DM患者恶性肿瘤全癌种发病率分别为969.69/10万和834.17/10万人年(person year),世界人口年龄标化发病率(age standardized rate,ASR ［W］)分别为206.72/10万人年和285.80/10万人年,男女性全癌种恶性肿瘤的标化发病比分别为0.93 (95%CI:0.88～0.98)和1.07 (95%CI:1.01～1.12)。结论  与一般人群相比,T2DM患者特定癌种的发病风险增高,不同癌种的发病风险变化存在差异。     

MDR1 C3435T polymorphism in patients with breast cancer

BACKGROUND: The human multidrug-resistant gene (MDR1) encodes P-glycoprotein (Pgp), a membrane-bound efflux transporter conferring resistance to a number of natural cytotoxic drugs and potentially toxic xenobiotics. Single-nucleotide polymorphisms (SNPs) in MDR1 gene are associated with phenotypic variation in Pgp expression levels of tissue. SNPs may alter the physiological protective role of Pgp and, therefore, influence disease risk. METHODS: In our study we identified the MDR1 C3435T polymorphism in breast cancer patients (n = 57) and healthy subjects (n = 50). DNA was extracted from peripheral blood samples by standard phenol/chloroform extraction method. Polymerase chain reaction-restriction fragment length polymorphism was used for the detection of C3435T single nucleotide polymorphism. RESULTS: We obtained CC, CT and TT genotype frequencies in breast cancer patients as 12.3%, 57.9% and 29.8%, respectively. In the control group, frequencies of genotypes were found as 36% for CC, 46% for CT and 18% for TT. We observed difference in SNPs in MDR1 gene C3435T polymorphism between breast cancer patients and healthy controls (chi(2) = 8.66, df = 2, p = 0.013). The C allele frequency was found in 41.2% and the T allele frequency was found in 58.8%. C3435T MDR1 gene allele frequencies in breast cancer patients as compared to results in control group were as follows: [OR = 1.5 (95% CI: 1.09-1.96)]. In the patient group, T allele frequency was significantly higher than controls (p <0.01). Clinicopathological parameters of patients with breast cancer were compared for C3435T polymorphism. We did not find any significant difference between clinicopathological parameters and MDR1 phenotype of breast cancer patients. The progression-free survival rate in a subgroup analysis based on MDR1 genotypes with CC genotype was 71.4%, CT genotype was 75.7%, and TT genotype was 88.2%, respectively. This difference was not statistically significant (log rank p = 0.63). CONCLUSIONS: Results of the present study demonstrated a 1.5-fold increased risk for development of breast cancer in T allele carriers.     

Prohibitin rs6917 C>T基因多态性与潮汕女性乳腺癌易感性的关系研究

目的研究潮汕汉族女性人群中Prohibitin(PHB)基因rs6917 C>T单核苷酸多态性(single nucleotide polymor-phism,SNP)与乳腺癌遗传易感性的关系。方法采用病例-对照研究,于2009年7~12月收集汕大医学院附属肿瘤医院231例乳腺癌住院患者和169例正常对照女性的外周血,提取全血基因组DNA,以高分辨率熔解曲线(highresolution mehing,HRM)法检测PHB基因rs6917位点基因型,计算各种基因型的乳腺癌发生风险及其95%可信区间。结果潮汕地区女性人群PHB rs6917存在两种基因型CC和TC,在乳腺癌组的频率分别为74.46%(C/C)、25.54%(T/C),在正常人群的频率分别为72.78%(C/C)和27.22%(T/C)。经统计学分析,T/C基因型携带者与C/C基因型携带者在乳腺癌发病风险上并无显著性差异(OR=1.090,95%CI=0.695~1.709,P=0.706)。结论未发现PHB基因rs6917位点SNP与潮汕汉族女性乳腺癌易感性具有相关性。     

硫酸基转移酶1A1 His等位基因与武汉地区汉族女性乳腺癌的关系

目的　探讨硫酸基转移酶 (sulfotransferase,SULT) 1A1基因Arg2 13His多态性与中国汉族女性乳腺癌的相关性 ,及其与乳腺癌相关危险因素的相互作用。方法　采用病例 对照、PCR RFLP方法检测了 2 0 9例原发性乳腺癌患者和 4 2 6例匹配对照 ,SULT1A1基因Arg2 13His多态性分布 ,并应用多因素Logistic回归等方法分析基因型对乳腺癌的危险度OR以及与相关危险因素的交互作用系数r。结果　 (1)SULT1A1Arg/Arg、Arg/His、His/His三种基因型分布病例与对照组之间差异无显著意义 (P =0 .12 )。病例、对照His等位基因频率分别为 13.6 %和 9.5 % (P =0 .0 3) ;(2 )与Arg/Arg基因型相比 ,Arg/His、His/His危险度呈增加趋势 (P =0 .0 4 ) ,His等位基因 (Arg/His +His/His)的调整OR为 2 .6 0 (95 %CI:1.12～ 6 .0 5 ,P =0 .0 4 ) ;(3)变异等位基因His对内源性雌激素暴露效应有放大作用 (r>1) ,对某些饮食摄入致癌物质暴露效应有减弱作用 (r <1) ,两种交互作用均为相乘模型。结论　SULT1A1His等位基因与汉族女性乳腺癌的危险性相关 ,且与其他相关危险因素之间存在交互作用。     

XRCC1单核苷酸多态及单体型分布与乳腺癌的相关研究

目的：探讨X线交叉互补基因1（XRCC1）外显子C26304T、G27466A和G28152A三处最常见的单核苷酸多态性（single nucleotide polymorphism，SNP）与乳腺癌的关系。方法：以自然人群为基础的病例对照研究方法，对84例乳腺癌患者组和以1：3成组频数匹配原则获得的252例对照组进行研究，XRCC1 C26304T、G27466A和G28152A SNPs基因分型采用聚合酶链反应-限制性内切酶片段长度多态性（polymerase chain reaction—restriction fragment length polymorphism，PCR—RFLP）分析方法。单体型分布采用EH linkage software 1．2分析软件进行预测和比较。结果：乳腺癌患者组和对照组吸烟状况分布差异有显著性，病例组曾经或现在吸烟个体比例7．1％明显高于对照组2．0％（P〈0．05），性别、年龄、饮酒状况及一二级亲属家族恶性肿瘤史等基本特征因素分布差异均无显著性（P〉0．05）。C26304T、G27466A和G28152A SNPs多态基因型和多态等位基因分布在两组间分布差异均无显著性（P〉0．05）。经上述因素校正后，XRCC1 SNPs与乳腺癌发病没有显著相关关系（P〉0．05）。应用EH linkage software 1．2单体型分析软件显示，XRCC1 SNPs在各组内均存在连锁不平衡现象，CGG、CGA、CAG和TGG是最常见的4类单体型。单体型组间分布同样不存在显著性差异（P〉0．05）。结论：XRCC1 C26304T、G27466A和G28152A SNPs与乳腺癌的风险没有相关关系，各SNPs存在连锁不平衡现象，CGG、CGA、CAG和TGG是最常见的4类单体型。     

不良孕产史与MTHFR基因677和1 298位点多态性的相关性

目的:探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T和A1 298C的基因多态性与不良孕产史之间的相关性?方法:选取53例曾有不良孕产史的女性和57例正常对照,应用DNA测序的方法检测MTHFR基因677位点和1 298位点的多态性,并对其多态性分布进行统计学分析,进而分析MTHFR基因与不良孕产史的发生之间的相关性?结果:在对照组中MTHFR基因677位点突变基因型T/T有3例(占5.3%),677位点基因型C/T同时存在1 298位点基因型A/C有9例(占15.8%);在病例组中MTHFR基因677位点突变基因型T/T有9例(占17%),677位点基因型C/T同时存在1 298位点基因型A/C有18例(占34%);经统计学分析在病例组和对照组中以上两种基因型之间均存在显著性差异(P < O.O5)?结论:MTHFR基因677位点基因型T/T(即677TT)以及677位点基因型C/T同时存在1 298位点基因型为A/C(即677CT+1298AC)增加了不良孕产史的发生风险?     

Association of breast cancer and cytokine gene polymorphism in Turkish women

OBJECTIVE: To investigate the association of cytokine gene polymorphism with the development of breast cancer. METHODS: The study was carried out in Uludag University Medical School, Bursa, Turkey. The study included 38 patients with breast cancer admitted to the Medical Oncology outpatient clinic, and 24 healthy controls, age and sex matched, from the Internal Medicine Department between 2004 and 2005. All genotyping of tumor necrosis factor-alpha (TNF-alpha), tumor growth factor-beta1 (TGF-beta1), interleukin (IL)-10, IL-6, and interferon-gamma (IFN-gamma) experiments were performed using polymerase chain reaction sequence-specific primers. RESULTS: The frequencies of IL-6-174GC genotype and IL-10 (-1082, -819, -592) GCC/ATA haplotype were significantly higher in the patient group (p=0.0008) when compared with controls (p=0.020). Significantly lower frequencies of IL-10 (-1082, -819, -592) ACC/ATA haplotype were observed in the patient group in comparison to the controls (p=0.026). The distribution of IFN-gamma +874, TNF-alpha 308, and TGF-beta1 codon 10-25 genotypes failed to show any statistical significant association with the development of breast cancer. CONCLUSION: Our data suggest that IL-10 (-1082, -819, -592) GCC/ATA haplotype and IL-6-174 GC genotype seem to be potential risk factors for the development of breast cancer. The presence of IL-10ACC/ATA haplotype may be protective for the oncogenesis of breast cancer.     

CD24基因多态性与乳腺癌遗传易感性的关系

目的：探讨CD24基因多态性与重庆地区汉族女性乳腺癌遗传易感性的关系。方法：采用病例对照研究,利用Sequenom MassArray？iPLEX GOLD系统对170例乳腺癌患者和178例健康者对照的CD24基因rs3838646和rs52812045单核苷酸多态性进行检测。并对检测结果进行t检验、χ2检验和非条件Logistic回归分析。结果：CD24基因rs3838646多态基因型和等位基因型在乳腺癌组和对照组的分布频率差异无统计学意义（χ2=3.54,P=0.17;χ2=2.29,P=0.13）;以绝经状况进行分层分析,发现与携带CA/CA基因型的绝经前个体比较,携带Del等位基因的个体患乳腺癌的风险显著降低（OR=0.51,95%CI 0.26~1.00,P=0.0485）。CD24基因rs52812045多态基因型和等位基因型在乳腺癌组和对照组的分布频率差异无统计学意义（χ2=5.37,P=0.07;χ2=3.05,P=0.08）;与携带C/C基因型的个体比较,携带T/T基因型的个体患乳腺癌发病风险显著降低（OR=0.47,95%CI 0.23~0.95,P=0.04）。结论：CD24基因多态性可能与重庆地区汉族女性乳腺癌的发病风险相关,但尚须进一步扩大样本量进行检测加以证实。     

FGFR2基因rs2981582和rs1219648与乳腺癌相关性研究

目的 探讨成纤维生长因子受体2（fibroblast growth factor receptor 2,FGFR2）基因第2内含子rs2981582和rs1219648及其单体型与女性乳腺癌的相关性,分析各多态性位点与乳腺癌临床特征的相关性.方法 采用病例-对照研究,PCR-RFLP方法检测203例乳腺癌患者和200例正常对照各位点基因型,分析各SNP及其单体型与乳腺癌的相关性、各位点的基因型分布与乳腺癌临床病理特征的相关性.结果 （1）rs2981582基因TT型在病例组分布频率明显高于对照组（OR=1.831,95％ CI=1.033～3.244,P=0.037）,rs1219648基因型频率在两组中的分布差异无统计学意义（P＞0.05）.（2）绝经后女性rs2981582基因TT型在病例组分布频率明显高于对照组（OR=2.659,95％CI=1.168～6.056,P=0.018）;rs1219648基因TT型在病例组分布频率明显高于对照组（OR =3.051,95％CI=1.383 ～ 6.734,P=0.005）.两位点多态性与乳腺癌临床特征的相关性分析结果表明差异无统计学意义（P＞0.05）.结论 （1） FGFR2 rs2981582可能与乳腺癌具有相关性;rs2981582和rs1219648可能与绝经后女性乳腺癌具有相关性.（2）FGFR2 rs2981582和rs1219648与乳腺癌病人的发病年龄、有无淋巴转移、雌激素受体、孕激素受体无相关性.     

A prospective study of folate intake and the risk of breast cancer

CONTEXT: Folate is involved in DNA synthesis and methylation and may reduce breast cancer risk, particularly among women with greater alcohol consumption. OBJECTIVES: To assess the association between folate intake and risk of breast cancer and whether higher folate intake may reduce excess risk among women who consume alcohol. DESIGN: Prospective cohort study performed in 1980, with 16 years of follow-up. SETTING AND PARTICIPANTS: A total of 88818 women who completed the dietary questionnaire section of the Nurses' Health Study in 1980. MAIN OUTCOME MEASURE: Incidence of invasive breast cancer by levels of folate and alcohol intake. RESULTS: A total of 3483 cases of breast cancer were documented. Total folate intake was not associated with overall risk of breast cancer. However, among women who consumed at least 15 g/d of alcohol, the risk of breast cancer was highest among those with low folate intake. For total folate intake of at least 600 microg/d compared with 150 to 299 microg/d, the multivariate relative risk (RR) was 0.55 (95% confidence interval [CI], 0.39-0.76; P for trend = .001). This association was only slightly attenuated after additional adjustment for intake of beta carotene, lutein/zeaxanthin, preformed vitamin A, and total vitamins C and E. The risk of breast cancer associated with alcohol intake was strongest among women with total folate intake of less than 300 microg/d (for alcohol intake > or =15 g/d vs <15 g/d, multivariate RR, 1.32; 95% CI, 1.15-1.50). For women who consumed at least 300 microg/d of total folate, the multivariate RR for intake of at least 15 g/d of alcohol vs less than 15 g/d was 1.05 (95% CI, 0.92-1.20). Current use of multivitamin supplements, the major source of folate, was associated with lower breast cancer risk among women who consumed at least 15 g/d of alcohol (for current users of supplements vs never users, RR, 0.74; 95% CI, 0.59-0.93). CONCLUSIONS: Our findings suggest that the excess risk of breast cancer associated with alcohol consumption may be reduced by adequate folate intake.     

Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial

Context  Tamoxifen is approved for the reduction of breast cancer risk, and raloxifene has demonstrated a reduced risk of breast cancer in trials of older women with osteoporosis. Objective  To compare the relative effects and safety of raloxifene and tamoxifen on the risk of developing invasive breast cancer and other disease outcomes. Design, Setting, and Patients  The National Surgical Adjuvant Breast and Bowel Project Study of Tamoxifen and Raloxifene trial, a prospective, double-blind, randomized clinical trial conducted beginning July 1, 1999, in nearly 200 clinical centers throughout North America, with final analysis initiated after at least 327 incident invasive breast cancers were diagnosed. Patients were 19 747 postmenopausal women of mean age 58.5 years with increased 5-year breast cancer risk (mean risk, 4.03% [SD, 2.17%]). Data reported are based on a cutoff date of December 31, 2005. Intervention  Oral tamoxifen (20 mg/d) or raloxifene (60 mg/d) over 5 years. Main Outcome Measures  Incidence of invasive breast cancer, uterine cancer, noninvasive breast cancer, bone fractures, thromboembolic events. Results  There were 163 cases of invasive breast cancer in women assigned to tamoxifen and 168 in those assigned to raloxifene (incidence, 4.30 per 1000 vs 4.41 per 1000; risk ratio [RR], 1.02; 95% confidence interval [CI], 0.82-1.28). There were fewer cases of noninvasive breast cancer in the tamoxifen group (57 cases) than in the raloxifene group (80 cases) (incidence, 1.51 vs 2.11 per 1000; RR, 1.40; 95% CI, 0.98-2.00). There were 36 cases of uterine cancer with tamoxifen and 23 with raloxifene (RR, 0.62; 95% CI, 0.35-1.08). No differences were found for other invasive cancer sites, for ischemic heart disease events, or for stroke. Thromboembolic events occurred less often in the raloxifene group (RR, 0.70; 95% CI, 0.54-0.91). The number of osteoporotic fractures in the groups was similar. There were fewer cataracts (RR, 0.79; 95% CI, 0.68-0.92) and cataract surgeries (RR, 0.82; 95% CI, 0.68-0.99) in the women taking raloxifene. There was no difference in the total number of deaths (101 vs 96 for tamoxifen vs raloxifene) or in causes of death. Conclusions  Raloxifene is as effective as tamoxifen in reducing the risk of invasive breast cancer and has a lower risk of thromboembolic events and cataracts but a nonstatistically significant higher risk of noninvasive breast cancer. The risk of other cancers, fractures, ischemic heart disease, and stroke is similar for both drugs. Trial Registration  clinicaltrials.gov Identifier: NCT00003906      

喀什地区维族妇女乳腺癌转移复发风险初步探讨

目的：探讨新疆喀什地区维吾尔族妇女乳腺癌复发转移风险,为临床术后的综合治疗方案和预后评估提供可靠的依据。方法：收集本院2009～2010年行手术切除的维吾尔族妇女乳腺癌患者72例,采用免疫组化En-Vision法检测乳腺癌组织中ER、PR、HER2、CK5/6、Ki-67、E-cad,做出6项复发转移风险评估的基因表达谱分类。结果：72例患者中40岁以上年龄患者56例,占77.78%;浸润性导管癌64例,占88.89%,Ⅱ～Ⅲ级以上高级别者占78%;肿瘤大小：T2以上者61例,占85%;查到脉管浸润65例,占90.3%;有淋巴结转移者52例,占72%;激素受体阳性49例,占76.6%,HER2阳性3＋患者13例,占20.3%（13/64）。结论：喀什地区维族妇女乳腺癌有较高的复发风险,激素受体阳性占77.6%,提示本地维族妇女乳腺癌大部分适用于内分泌治疗。     

Association of the polymorphisms of MTHFR C677T, VDR C352T, and MPO G463A with risk for esophageal squamous cell dysplasia and carcinoma

BACKGROUND: From January 2004 to December 2006 a program of endoscopic screening for esophageal lesions was carried out in the high incidence area of esophageal cancer in Feicheng County, China. It provided the samples to evaluate the association of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677T, vitamin D receptor (VDR) C352T, and myeloperoxidase (MPO) G463A genotypes with esophageal squamous cell dysplasia and carcinoma. METHODS: The subjects in the study were divided into 127 dysplasia cases, 126 squamous cell carcinoma cases, and 169 normal controls. Analyses of the MTHFR C677T, VDR C352T, and MPO G463A genotypes were performed using the PCR-restriction fragment length polymorphism (RFLP) method, whereas the multinomial logistic regression model was used in the data analysis to assess the odds ratios (ORs) related to dysplasia and carcinoma. RESULTS: Compared with the CC genotype of MTHFR C677T, the TT/TC of the genotype significantly increased the risk of the esophageal squamous cells dysplasia [OR, 2.25; 95% confidence interval (CI), 1.18-4.31]; the OR of esophageal squamous cancer was 1.58 (95% CI, 0.85-2.97) after adjustments for age, sex, and years of education. There was an interaction between the TT/TC genotype and alcohol drinking, smoking, and family history of esophageal cancer in the risk of esophageal dysplasia and carcinoma. CONCLUSIONS: Neither the VDR C352T nor the MPO G463A genotype had manifested association with the dysplasia and carcinoma of the disease, whereas the MTHFR 677TT genotype may be a genetic risk factor for esophageal dysplasia and carcinoma.     

环境接触青石棉肿瘤发生危险的15年随访调查

目的探讨环境接触青石棉队列人群患肿瘤的危险。方法采用回顾队列调查方法对大姚县6254人进行15年(1987～2001)的追踪研究，调查石棉相关肿瘤的死亡率及相对危险度(RR)。结果观察组中有186例死于癌症，死亡率为2160．5／10^6人年(RR=1．293；95％CI：1．032～1．618)。其中20例间皮瘤，死亡率为232．3／10^6人年(RR=17．929；95％CI：2．406～133．592)，男女分别为267．5／10^6人年和186．7／10^6人年；56例死于肺癌，死亡率(650．5／10^6人年)的增加与对照组比较差异无统计学意义(RR=1．434；95％CI：0．968～2．486)；胃肠道肿瘤的死亡率在两组中差异无统计学意义(P＞0．05)，但在观察组男性中患肠癌的危险显著增加(RR=3．781；95％CI：1．077～13．270)。结论环境接触青石棉后人群患间皮瘤的危险明显增加，男性患肠癌危险度的增加需进一步证实。     

Prospective study of estrogen replacement therapy and risk of breast cancer in postmenopausal women

We prospectively examined the use of estrogen replacement therapy in relation to breast cancer incidence in a cohort of women 30 to 55 years of age in 1976. During 367 187 person-years of follow-up among postmenopausal women, 722 incident cases of breast cancer were documented. Overall, past users of replacement estrogen were not at increased risk (relative risk, 0.98; 95% confidence interval, 0.81 to 1.18), including even those with more than 10 years since last [corrected] use (relative risk after adjustment for established risk factors, 0.70; 95% confidence interval, 0.45 to 1.10). However, the risk of breast cancer was significantly elevated among current users (relative risk, 1.36; 95% confidence interval, 1.11 to 1.67). Among current users, a stronger relationship was observed with increasing age but not with increasing duration of use. These data suggest that long-term past use of estrogen replacement therapy is not related to risk of breast cancer but that current use may modestly increase risk.     

Analysis of the ERalpha germline PvuII marker in breast cancer risk.

BACKGROUND: Prolonged exposure to estrogens was found to be a risk factor for breast cancer. The molecular mechanism has been suggested to be the binding of estrogen receptors in mammary tissue, which promotes the proliferation of breast tissue. Different biomarkers mapping estrogen receptor alpha (ESR1) have been associated with breast cancer risk, although the size of the effect is not consistent among different reports. Variation in the estrogen receptor gene PvuII has been associated with an increased risk of developing breast cancer. However, some studies suggest that its effect might be constrained to a definite subgroup of patients. MATERIAL/METHODS: In this study the involvement of PvuII in breast cancer was analyzed in an independent sample of 444 unrelated breast cancer cases and 704 controls of Spanish origin. A case-control comparison was performed and the genotype distributions examined according to different tumor and population parameters. RESULTS: A trend towards association was observed in adjusted case-control association analysis (p=0.07). PvuII was associated with the familial forms of breast cancer (OR=3.81, p=0.02). T allele frequency was higher among patients with highly differentiated tumors (p=0.02), positive for steroid receptors (p=0.06), and negative for p53 (p=0.02). However, the PvuII genetic background did not affect disease-free survival time (p=0.65). CONCLUSIONS: The PvuII T allele may be a germline risk factor for familial forms of breast cancer and is associated with a specific subset of immunohistochemical tumor phenotype.     

乳腺癌前哨淋巴结的临床病理意义

目的:探讨乳腺癌淋巴结勘测性前哨淋巴结活检对于临床病理的意义.方法:对54例 T1及T2浸润性乳腺癌患者实行勘测性前哨淋巴结切除术(sentinel lymph node dissec tio n, SLND)和腋窝淋巴结切除术(axillary lymph node dissection, ALND).T1肿瘤直径< 2 cm,T2肿瘤直径2～5 cm.乳腺癌前哨淋巴结(sentinel lymph node,SLN)的勘测用活性蓝示踪法识别.SLN经常规苏木精和伊红(hematoxylin and eosin,HE)染色、病理分析及连续多层切片检查.结果:54例T1及T2浸润性乳腺癌100%发现前哨淋巴结,共切除168个,1 5例29个前哨淋巴结见癌转移,SLN及腋窝淋巴结(axillary lymph node,ALN)均未转移38 例,SLN癌转移、ALN未见转移5例,SLN及ALN均见转移10例,SLN假阴性1例.常规病理检查阴性的SLN经过连续多层面切片1例发现微小转移灶.结论:SLND对于发现乳腺癌腋下转移有高的敏感性,是一个有用的、准确评价腋窝淋巴结转移的方法.     

Prospective study of relative weight, height, and risk of breast cancer

We examined relative weight and height in relation to subsequent breast cancer risk among 115,534 women 30 to 55 years of age and free from cancer in 1976. By 1984, six hundred fifty-eight premenopausal and 420 postmenopausal breast cancers were documented during 734,716 person-years. Among premenopausal women, risk of breast cancer decreased significantly with increasing relative weight (relative risk for the highest category was 0.6). A similar inverse association was seen for recalled relative weight at 18 years of age. Postmenopausal breast cancer was not associated with relative weight, either recent or at age 18. Height was not associated with breast cancer risk among premenopausal women and only weakly related among postmenopausal women. These data suggest that obesity among premenopausal and early postmenopausal women does not increase breast cancer risk substantially.     

p73 基因多态性与乳腺癌临床病理参数的关系

目的: 研究p73 基因G4C14-A4T14 多态性与乳腺癌临床病理参数的关系。方法: 利用Sequenom Mass Arrayi PLEX GOLD 系统, 对170 例原发性乳腺癌患者进行p73 基因G4C14-A4T14 多态性检测, 并以t 检验分析不同基因型与乳腺癌患者年龄、原发灶大小的相关性;以χ² 检验分析不同基因型与乳腺癌临床病理参数的相关性;应用非条件logistic 回归分析比较不同基因型与乳腺癌化学治疗疗效之间的关系。结果:p73 基因多态性与乳腺癌患者的年龄、原发灶大小、绝经状况、TNM 分期、病理类型、腋窝淋巴结转移、雌激素受体、孕激素受体、人表皮生长因子受体2 以及p53 均无明显相关性(P>0.05); 三阴性乳腺癌( 雌激素受体、孕激素受体及人表皮生长因子受体2 均阴性) 中GC/GC 基因型频率明显高于非三阴性乳腺癌 (78.9% vs 57.6%,χ²=5.741, P=0.017);p73 基因多态性与乳腺癌对蒽环类药物的化学治疗敏感性无明显关系(P>0.05)。结论:p73 基因G4C14-A4T14 多态性与三阴性乳腺癌显著相关, 携带GC/GC 基因型的乳腺癌患者可能预后不良。