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埃及达卡利亚省乳腺癌中p53基因的突变

Mutations of p53 gene in breast cancer in the Egyptian province of Dakahliya.

作者信息

El-Ghannam Doaa M, Arafa Mohammad, Badrawy Tarek

机构信息

Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Egypt.

出版信息

J Oncol Pharm Pract. 2011 Jun;17(2):119-24. doi: 10.1177/1078155209356130. Epub 2009 Dec 16.

Abstract

BACKGROUND

Breast cancer is the most common malignancy among females worldwide. Molecular analysis of p53 is likely to have value in diagnosis, prognosis, and treatment of breast cancer.

OBJECTIVE

To study the frequency and spectrum of p53 gene mutations in breast cancer patients residing Al Dakahliya district in the north of Egypt.

MATERIALS AND METHODS

Thirty patients with cancer breast as well as 10 controls were evaluated for p53 status by flow-cytometry, PCR-SSCP, and sequencing analysis.

RESULTS

P53 mutations were evident in five breast cancer patients (17%) including two missense mutations (A218 T and R279 G) in exon 6, 8; nonsense mutations (S297stop and Y159stop) in exon 8, 5, respectively, and frame shift mutation (M133 fs) in exon 5. p53 mutations were associated with invasive ductal carcinoma, large tumor size, and advanced disease stage

CONCLUSION

p53 gene mutations is potentially responsible for pathogenesis and clinical aggressiveness of breast cancer in our locality.

摘要

背景

乳腺癌是全球女性中最常见的恶性肿瘤。p53的分子分析可能在乳腺癌的诊断、预后和治疗中具有价值。

目的

研究居住在埃及北部达卡利亚地区的乳腺癌患者中p53基因突变的频率和谱。

材料与方法

通过流式细胞术、聚合酶链反应-单链构象多态性(PCR-SSCP)和测序分析对30例乳腺癌患者以及10例对照进行p53状态评估。

结果

5例乳腺癌患者(17%)存在p53突变,包括外显子6、8中的两个错义突变(A218T和R279G),外显子8、5中的无义突变(S297stop和Y159stop),以及外显子5中的移码突变(M133fs)。p53突变与浸润性导管癌、肿瘤体积大及疾病晚期相关。

结论

p53基因突变可能是我们当地乳腺癌发病机制和临床侵袭性的原因。

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