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目的研究新疆地区维、汉两族早发性乳腺癌BRCA1基因突变情况及临床病理特征。方法选取病理确诊的65例(维族35例,汉族30例)早发性乳腺癌标本,运用酶链聚合反应(polymerase chain reaction,PCR)和DNA测序方法检测BRCA1基因突变情况,并结合临床病理因素进行相关分析。结果 65例早发性乳腺癌(发病年龄≤35岁)BRCA1的突变率为21.5%(14/65),35例维吾尔族早发性乳腺癌BRCA1突变率为34.3%(12/35),30例汉族早发性乳腺癌BRCA1突变率为6.7%(2/30)。65例早发性乳腺癌BRCA1突变的位点为第2、第10、第18号外显子,共发现14个突变位点,位于Exon10共11个,其中10个可引起氨基酸错义突变,3个无义突变;位于Intron18上的1个拼接点突变。65例早发性乳腺癌中BRCA1基因突变者和未突变者在淋巴结转移状况、P53和Ki-67表达情况、组织学分级方面差异有统计学意义(P<0.05)。结论疆维地区维族、汉族早发性乳腺癌BRCA1基因突变率差异具有统计学意义(P<0.05),突变位点可能是新疆维族早发性乳腺癌的遗传易感性位点,与早发性乳腺癌发病存在关联。BRCA1突变者主要临床表现为淋巴结转移多,P53突变率高、Ki-67蛋白高表达等,提示早发性乳腺癌可能发病早、恶性程度高。
Objective To investigate the mutation and clinicopathological features of BRCA1 gene in early-onset breast cancer in Victoria and Chinese in Xinjiang region. Methods Totally 65 cases (Uygur 35 cases, Han 30 cases) with early diagnosed breast cancer were enrolled in this study. The mutation of BRCA1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. Combined with clinicopathological factors Related analysis. Results The mutation rate of BRCA1 was 21.5% (65/65) in 65 cases of early-onset breast cancer (age≤35 years), 34.3% (12/35) in 35 cases of Uighur early-onset breast cancer, 30 Cases of early Han nationality breast cancer BRCA1 mutation rate was 6.7% (2/30). The BRCA1 mutation in 65 cases of early-stage breast cancer was found in exon 2, 10 and 18, and 14 mutations were found in 11 sites of Exon10, 10 of which could cause amino acid missense mutation. 3 A nonsense mutation; 1 splicing point mutation on Intron18. There were significant differences in lymph node metastasis, expression of P53 and Ki-67 and histological grading in 65 cases of early-onset breast cancer with no mutation and no mutation of BRCA1 gene (P <0.05). Conclusion The mutation rate of BRCA1 gene in Uighur and Han nationality with early-stage breast cancer in Xinjiang Uygur Autonomous Region has a significant difference (P <0.05). The mutation locus may be the predisposing locus of Uygur early-onset breast cancer in Xinjiang Uygur Autonomous Region, Breast cancer is related. The main clinical manifestations of BRCA1 mutation were lymph node metastasis, high P53 mutation rate and high expression of Ki-67 protein, suggesting that early-onset breast cancer may have early onset and high malignancy.