Abstract：
Breast cancer (BC) is the most common malignancy in women in western countries. A significant part of malignant cases is caused by genetic mutation. Mutations in the gene phosphatase and tensin homologue deleted on chromosome (PTEN) have been proven in various malignancies. The present study was conducted with the aim of investigating the prevalence of BC due to PTEN gene mutation, as well as estimating the chance of developing BC due to the occurrence of PTEN gene mutation. The present study was conducted using a systematic review method based on PRISMA 2020 statements. The search was done in PubMed, Web of Science (WOS), Scopus, and direct scientific databases. The search was performed using the keywords breast cancer, breast malignancy, PTEN, polymorphism, mutation, variant, and their equivalents. Statistical analysis was performed using the second version of Comprehensive Meta-Analysis Software. A total of 2138 articles were collected. After removing duplicate articles, checking the title and abstract, and then checking the full text of the documents, finally 64 articles were approved and entered the systematic review process. Analysis of these studies with a sample size of 231,179 showed the prevalence of breast cancer patients with PTEN mutations. The combined results of 64 studies showed that the prevalence of PTEN mutations has a 3.3 (95% CI 2.2-5) in BC patients, and an analysis of 6 studies showed that the odds ratio of developing BC due to PTEN mutation is 3.7 (95% CI 1.1-11.9). The results of this study show that mutation in the PTEN gene increases the chance of developing BC. However, it was found that a small part of patients gets BC due to the occurrence of mutation in this gene.
摘要：
乳腺癌（BC）是西方国家女性最常见的恶性肿瘤。恶性肿瘤的很大一部分是由基因突变引起的。染色体上缺失的基因磷酸酶和张力蛋白同源物（PTEN）的突变已在各种恶性肿瘤中得到证实。本研究旨在调查由于PTEN基因突变引起的BC的患病率。以及估计由于PTEN基因突变的发生而发生BC的机会。本研究采用基于PRISMA2020报表的系统综述方法进行。搜索是在PubMed中完成的,WebofScience(WOS),Scopus,和直接的科学数据库。搜索是使用关键词乳腺癌，乳腺恶性肿瘤,PTEN,多态性,突变,变体，和它们的等价物。使用综合Meta分析软件第二版进行统计分析。共收集2138篇文章。删除重复的文章后，检查标题和摘要，然后检查文件的全文，最终批准了64篇文章，并进入系统审查过程。对这些研究的样本量为231,179的分析表明，具有PTEN突变的乳腺癌患者的患病率。64项研究的综合结果显示，在BC患者中PTEN突变的患病率为3.3（95％CI2.2-5），对6项研究的分析表明，由于PTEN突变而发生BC的比值比为3.7（95％CI1.1-11.9）。这项研究的结果表明，PTEN基因的突变增加了发生BC的机会。然而,发现一小部分患者由于该基因的突变而获得BC。
