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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。
Objective: To investigate the mutation of BRCA1 gene and the expression of P53 protein in Uighur breast cancer patients in Xinjiang Uygur Autonomous Region. Methods: Seventy Uygur patients with breast cancer were selected from the First Affiliated Hospital of Shihezi University and the First People’s Hospital of Kashi Prefecture from January 2000 to June 2004. Among them, 22 cases of Uighur early-onset breast cancer (≤35 years old, which is defined as early-onset breast cancer). 51 patients with lymph node metastasis. 2 cases of bilateral breast cancer. Another 32 cases of non-Uygur breast cancer adjacent non-cancerous tissue and benign breast lesions (fibroadenosis and fibroadenoma) as a control; the above specimens were fixed formaldehyde solution and a small amount of frozen paraffin-embedded tissue. The mutation of BRCA1 gene was detected by polymerase chain reaction-single strand conformation polymorphism analysis and DNA sequence determination. The expression of P53 protein was detected by Evision two-step method. Results: ①A total of 12 new sites of BRCA1 mutations were found in 70 cases of Uygur breast cancer. ② The mutation rate of BRCA1 in 70 cases of Uigur breast cancer was 12.86% (9/70). The mutation rate of BRCA1 in 22 cases of Uighur early-onset breast cancer (≤35 years old) was 31.82% (7/22), which was higher than that of Uighur Family late-stage breast cancer (2/48), the difference was significant (χ2 = 10.295, P <0.01). ③ BRCA1 mutation was detected in 2 cases of bilateral breast cancer. ④70 cases of Uygur breast cancer found in 9 cases of BRCA1 gene nucleotide polymorphisms. ⑤ The positive rate of P53 protein in BRCA1-associated breast cancer was higher than that in control group, and the lymph node metastasis rate was higher in control group than in control group. Conclusion: The mutation of BRCA1 gene is closely related to the occurrence of early-stage breast cancer and bilateral breast cancer in Uygur nationality in Xinjiang Uygur nationality. The positive rate of P53 in breast cancer with BRCA1 mutation is high, the age of onset tends to be younger and the rate of lymph node metastasis is higher , These characteristics may provide a reference for genetic screening before screening.