摘要
目的:了解新疆地区维吾尔族乳腺癌患者BRCA1基因突变及P53蛋白的表达情况。方法:选择2000-01/2004-06石河子大学医学院第一附属医院、喀什地区第一人民医院病理科收集的70例维吾尔族乳腺癌根治标本。其中维吾尔族早发性乳腺癌(≤35岁,即定为早发性乳腺癌)22例。51例患者淋巴结转移。2例为双侧乳腺癌。另选32例维吾尔族乳腺癌旁非癌组织及乳腺良性病变(纤维腺病及纤维腺瘤)作对照;上述标本为甲醛溶液固定石蜡包埋组织及少量新鲜冰冻组织。运用聚合酶链反应-单链构象多态性分析和DNA序列测定的方法检测BRCA1基因突变及用Evision二步法检测P53蛋白的表达。结果:①70例维吾尔族乳腺癌中发现9例BRCA1突变的12个新位点。②70例维吾尔族乳腺癌中BRCA1的突变率为12.86%(9/70);其中22例维吾尔族早发性乳腺癌(≤35岁)BRCA1突变率为31.82%(7/22),高于维吾尔族晚发性乳腺癌(2/48),差异有显著性(χ2=10.295,P<0.01)。③2例双侧乳腺癌中均检测出BRCA1基因的突变。④70例维吾尔族乳腺癌中发现9例BRCA1基因核苷酸多态性位点。⑤BRCA1基因突变相关性乳腺癌中P53蛋白阳性表达率高于对照组,其淋巴结转移率高于对照组,其发病年龄小于对照组。结论:BRCA1基因突变与新疆维吾尔族早发性乳腺癌及双侧乳腺癌的发生密切相关,且BRCA1突变相关性乳腺癌具有P53阳性率高、发病年龄趋于年轻化、淋巴结转移率高的趋势,这些特点有可能为基因检测前的筛选提供参考依据。
AIM： To study the BRCA 1 gene mutation and the expression of P53 protein in Uigur women with breast cancer in Xinjiang area. METHODS： The experiment was carried out in the First Affiliated Hospital of Shihezi University School of Medicine and the Department of Pathology, First People＇s Hospital of Kashi District from January 2000 to June 2004. By using single strand conformational polymorphism and DNA sequencing, BRCA1 mutations were detected in 70 Uigur women cases with breast cancer and 32 cases with benign breast diseases and non-tumor tissue next to carcinoma （fibroadenosis and fibroadenoma）. Among 70 Uigur women of breast cancer, 22 cases were diagnosed as early-onset breast cancer （≤35 years old）, 2 cases were bilateral breast cancer, and 51 cases appeared lymphatic metastases. The expression of P53 protein was detected immunohistochemically by Envision two-step method in 70 cases of breast cancer. The specimina were fixed in formaldehyde solution and imbedded with paraffin, together with few fresh frozen tissues. RESULTS：①Twelve new loci of BRCA1 mutation were detected firstly in 70 Uigur women cases with breast cancer.②The frequency of BRCA1 mutation was 12.86% （9/70） in 70 Uigur women cases with breast cancer, and 31.82% （7/22） in Uigur women with early-onset breast cancer, which was significantly higher than that in Uigur women with late-onset breast cancer （χ^2=10.295, P 〈 0.01 ）.③The two bilateral breast cancer patients were both found BRCA 1 mutation.④There were BRCA1 gene polymorphisms in 9 of 70 Uigur women with breast cancer. ⑤Compared with non-BRCA1 mutation group, P53 positive rate was higher in the patients with BRCA1 mutation-associated breast cancer and lymphatic metastases, and the patients were younger than the controls. CONCLUSION： The mutation of BRCA 1 gene may be related to Uigur early-onset breast cancer and bilateral breast cancer. BRCA 1 mutation-associated breast cancer is high in P53 positive rate and lymphatic metastases in the age of t
出处
《中国组织工程研究与临床康复》
CAS
CSCD
北大核心
2007年第29期5784-5787,共4页
Journal of Clinical Rehabilitative Tissue Engineering Research
基金
新疆兵团医药卫生专项(NKB03BZSYY31SY)
教育部科学技术研究重点项目(206167)~~
