乳腺癌（BC）是西方国家妇女中最常见的恶性肿瘤。恶性病例中的一部分由遗传突变引起。研究的目的是调查由PTEN基因突变导致的BC患病率，并估计由PTEN基因突变引起BC的发病几率。本研究采用基于PRISMA 2020声明的系统综述方法进行。在PubMed、Web of Science（WOS）、Scopus和直接科学数据库中进行搜索。关键词包括乳腺癌、乳腺恶性肿瘤、PTEN、多态性、突变、变异以及它们的同义词。统计学分析使用Comprehensive Meta-Analysis软件的第二版进行。收集了2138篇文章。去掉重复文章后，筛查标题和摘要，再查看文档的全文，最终有64篇文章得到批准并进入系统综述过程。对这些规模为231,179的研究进行分析，显示PTEN突变的乳腺癌患者的患病率。64项研究的综合结果显示，PTEN突变在BC患者中患病率为3.3（95% CI 2.2-5），6项研究的分析显示，由于PTEN突变而发展为BC的比值比为3.7（95% CI 1.1-11.9）。本研究结果表明，PTEN基因突变会增加发展为BC的几率。然而，发现只有少数患者由于该基因的突变而患上BC。© 2023，作者通过Springer Science+Business Media, LLC独家许可，Springer Nature的一部分。

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.© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.