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伊朗乳腺癌和卵巢癌患者中BRCA1和BRCA2基因突变的模式与谱系

The patterns and spectrum of BRCA1 and BRCA2 mutations in Iranian breast and ovarian cancer patients.

作者信息

Forghani Shayan, Mirzaee Hamid Reza, Rezvani Hamid, Forghani Arman, Mahdavi Sabet Fatemeh, Hojjat Ali, Malekzadeh Mona, Akbari Atieh, Tabarestani Sanaz

机构信息

Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Department of Radiotherapy-Oncology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Fam Cancer. 2025 Mar 30;24(2):34. doi: 10.1007/s10689-025-00459-7.

Abstract

Women with inherited BRCA1/2 mutations are at increased risk of breast and ovarian cancer. The reports on the prevalence and spectrum of these mutations have been primarily focused on individuals with European ancestry. A previous study on Iranian breast cancer patients reported no BRCA1/2 mutation in early-onset breast cancer with no other criteria, which is contrary to other populations. The purpose of this study was to characterize the patterns of these mutations in Iranian breast and ovarian cancer patients and evaluate the predictive efficacy of the Manchester scoring system in patients and their unaffected family members. We retrospectively reviewed the genetic testing performed for breast and ovarian cancer patients and unaffected individuals with a positive family history. The study participants were selected based on the NCCN (National Comprehensive Cancer Network) criteria (version 2.2024). A total of 376 female breast cancer patients, 49 ovarian cancer patients, and 74 unaffected individuals were enrolled in this study. In breast cancer patients, 24 (6.4%) BRCA1 and 23 (6.1%) BRCA2 mutations were detected. In ovarian cancer patients, 9 (18.5%) BRCA1 and 1 (2%) BRCA2 mutations were identified. Three (4.1%) BRCA2 mutations were identified in unaffected individuals. Seven breast cancer patients with age of cancer diagnosis ≤ 40 and no other criteria (including family history) had an underlying mutation: Four BRCA2, and three BRCA1 mutations. The Manchester score performed well, with a sensitivity of 81% and a specificity of 70%. More research is needed to clarify the hereditary component of breast and ovarian cancer in Iranian patients.

摘要

携带遗传性BRCA1/2基因突变的女性患乳腺癌和卵巢癌的风险增加。关于这些突变的患病率和谱系的报告主要集中在欧洲血统的个体。先前一项针对伊朗乳腺癌患者的研究报告称,在无其他标准的早发性乳腺癌患者中未发现BRCA1/2突变,这与其他人群的情况相反。本研究的目的是描述伊朗乳腺癌和卵巢癌患者中这些突变的模式,并评估曼彻斯特评分系统对患者及其未患病家庭成员的预测效能。我们回顾性分析了对乳腺癌和卵巢癌患者以及有阳性家族史的未患病个体进行的基因检测。研究参与者根据美国国立综合癌症网络(NCCN,2024年第2版)标准进行选择。本研究共纳入376例女性乳腺癌患者、49例卵巢癌患者和74例未患病个体。在乳腺癌患者中,检测到24例(6.4%)BRCA1突变和23例(6.1%)BRCA2突变。在卵巢癌患者中,鉴定出9例(18.5%)BRCA1突变和1例(2%)BRCA2突变。在未患病个体中鉴定出3例(4.1%)BRCA2突变。7例癌症诊断年龄≤40岁且无其他标准(包括家族史)的乳腺癌患者存在潜在突变:4例BRCA2突变和3例BRCA1突变。曼彻斯特评分表现良好,敏感性为81%,特异性为70%。需要更多研究来阐明伊朗患者乳腺癌和卵巢癌的遗传成分。

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