Medical Biology Research Center, Health Technology Institute, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Student Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Biochem Genet. 2024 Jun;62(3):1617-1635. doi: 10.1007/s10528-023-10464-z. Epub 2023 Sep 2.
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.
乳腺癌（BC）是西方国家女性中最常见的恶性肿瘤。很大一部分恶性病例是由基因突变引起的。磷酸酶和张力蛋白同源物缺失的基因（PTEN）突变已在各种恶性肿瘤中得到证实。本研究旨在调查由 PTEN 基因突变引起的 BC 的患病率，并估计由于发生 PTEN 基因突变而导致 BC 的发生几率。本研究采用基于 PRISMA 2020 声明的系统评价方法进行。在 PubMed、Web of Science（WOS）、Scopus 和直接科学数据库中进行了搜索。使用关键词乳腺癌、乳腺恶性肿瘤、PTEN、多态性、突变、变体及其等同物进行了搜索。使用 Comprehensive Meta-Analysis Software 第二版进行了统计分析。共收集了 2138 篇文章。在去除重复文章、检查标题和摘要后，然后检查文献的全文，最终批准了 64 篇文章并进入系统评价过程。对这些研究进行分析，样本量为 231,179 人，显示了 PTEN 突变的乳腺癌患者的患病率。64 项研究的综合结果表明，BC 患者中 PTEN 突变的患病率为 3.3（95%CI 2.2-5），6 项研究的分析表明，由于 PTEN 突变而患上 BC 的几率比为 3.7（95%CI 1.1-11.9）。本研究结果表明，PTEN 基因的突变增加了患乳腺癌的机会。然而，发现一小部分患者因该基因的突变而患上 BC。
