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首页> 外文期刊>Oncology letters >Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population
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Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population

机译：BRCA1 / 2中突变的表征及其与乳腺癌临床病理特征的关系，在近期中国人口中

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摘要

The database of BRCA1/2 mutations in Chinese population remains incomplete at present. Therefore, the present study aimed to report specific harmful BRCA1/2 mutations in the Chinese population and discuss the clinicopathological features in mutation carriers. BRCA1/2 germline mutation tests for 71 patients with breast cancer from a hereditarily high-risk Chinese population were performed using next-generation sequencing for identification of deleterious mutations. Furthermore, the clinicopathological features between BRCA1/2 mutation carriers and non-carriers were compared. A total of 13/71 (18.3%) patients carried a BRCA1 or BRCA2 mutation (7 BRCA1 and 6 BRCA2). The incidence of BRCA1/2 mutation in patients with bilateral breast cancer and patients with family history were 25, and 32.2%, respectively. Eleven pathogenic or likely pathogenic mutations were identified in 13 patients, among the mutation sites 7 were never reported before in Asian populations. The age at diagnosis of BRCA1/2 mutation carriers was older compared with non-mutation carriers (44.73 vs. 35.39 years; P=0.001) in this cohort. BRCA1/2 deleterious mutation carriers had a significantly lower chance of human epidermal growth factor receptor-2 (Her-2) positive status (P=0.010), higher tumor grade at diagnosis (P=0.009), higher probability to have a family history (P=0.016) and older age at diagnosis. Estrogen receptor (ER) and progesterone receptor (PR) status were significantly different between BRCA1, and BRCA2 mutation carriers (P=0.007). The current interpretation of BRCA1/2 status can only explain a small part of hereditary high-risk breast cancer. However, BRCA1/2 gene testing should still be recommended for women with a family history of breast cancer, as well as patients with breast cancer with specific pathologic types, which may be useful to make appropriate clinical decisions for treatment and prevention.
机译：目前中国人口中BRCA1 / 2突变数据库仍然不完整。因此，本研究旨在报告中国人口中的特异性有害BRCA1 / 2突变，并讨论突变载体中的临床病理特征。 BRCA1 / 2种系突变试验从遗传性高风险的中国人群中获得71例乳腺癌患者，采用下一代测序进行了鉴定有害突变。此外，比较BRCA1 / 2突变载体和非载体之间的临床病理特征。共13/71（18.3％）患者携带BRCA1或BRCA2突变（7 BRCA1和6 BRCA2）。双侧乳腺癌和家族病史患者的BRCA1 / 2突变的发病率分别为25分，32.2％。在13名患者中鉴定了11例病原或可能的致病性突变，其中突变位点在亚洲群体中从未报道过。与非突变载体相比，BRCA1 / 2突变载体的诊断年龄较大（44.73与35.39岁; P = 0.001）。 BRCA1 / 2有害突变载体具有显着降低人表皮生长因子受体-2（HER-2）阳性状态（P = 0.010）的机会，诊断较高的肿瘤级（P = 0.009），具有家族史的更高概率（P = 0.016）和较老年的诊断。 BRCA1和BRCA2突变载体之间的雌激素受体（ER）和孕酮受体（PR）状态有显着差异（P = 0.007）。目前对BRCA1 / 2状态的解释只能解释遗传性高危乳腺癌的一小部分。然而，BRCA1 / 2基因测试仍应适用于乳腺癌家族史的妇女，以及具有特异性病理类型的乳腺癌患者，这可能是对治疗和预防进行适当的临床决策有用。

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  • 来源
    《Oncology letters》 |2018年第1期|共7页
  • 作者

    Fang Min; Zhu Li; Li Hengyu; Li Xizhou; Wu Yanmei; Wu Kainan; Lin Jian; Sheng Yuan; Yu Yue;

  • 作者单位

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

    Chinese Peoples Liberat Army Gen Hosp Dept Gen Surg Beijing 100853 Peoples R China;

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

    Second Mil Med Univ Changhai Hosp Dept Breast &

    Thyroid Surg 168 Changhai Rd Shanghai 200433;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 肿瘤学;
  • 关键词

    breast neoplasms; BRCA1; BRCA2; clinic-pathological; Chinese population;

    机译：乳腺肿瘤;BRCA1;BRCA2;诊所 - 病理;中国人口;

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