PDF(Pubmed)
Abstract：
The demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer. In this study, we aimed to demonstrate the clinical and demographic findings of patients who had BRCA-related cancer and to assess the differences comparing their relatives who had BRCA-related cancer with breast, genital tract, prostate, and pancreas cancers as well. The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who have been directed to genetic counseling with an indication of BRCA1/BRCA2 testing from different regions across 9 medical oncology centers were retrospectively analyzed. A total of 200 consecutive cancer patients who harbored the BRCA1/BRCA2 pathogenic/likely pathogenic variant (130 (65%) patients harbored BRCA 1 pathogenic/likely pathogenic variant, and 70 harbored BRCA 2 pathogenic/likely pathogenic variant) were included. Of these, 64.0% had breast cancer (43.8% of them had the triple-negative disease, and about 2.3% had only the HER-2 mutant), 31.5% had genital cancers (92.1% of them had ovarian cancer, 3.2% had endometrium, and 1.6% had peritoneum cancer as the primary site and mostly serous adenocarcinoma was the most common histopathology and 14.3% of the patients had endometrioid adenocarcinoma), 3.5% had prostate (median time from metastasis to castration-resistant status was 28 months) and 1.0% had pancreas cancer. Newly diagnosed cancer (breast and ovary) patients who had BRCA 1/BRCA 2 pathogenic/ likely pathogenic variant were younger than their previous cancer diagnosed (breast, ovary, and pancreas) parents who harbored BRCA pathogenic/likely pathogenic variant. We suggest that the genetic screening of BRCA 1/ BRCA 2 pathogenic/likely pathogenic variant is needed as a routine screening for those with a personal or family history of breast, ovarian, tubal, or peritoneal cancer. In addition, once BRCA 1 or BRCA 2 germline pathogenic variant has been identified in a family, testing of at-risk next-generation relatives earlier can identify those family members who also have the familial pathogenic variant, and thus need increased surveillance.
摘要：
具有BRCA1/BRCA2致病性/可能致病性变异的患者的人口统计学和临床特征可能与其患有BRCA相关癌症的亲属不同。在这项研究中,我们旨在证明BRCA相关癌症患者的临床和人口统计学结果，并评估BRCA相关癌症患者亲属与乳腺癌的差异，生殖道,前列腺,还有胰腺癌.对200名癌症患者(190名女性,回顾性分析了来自9个医学肿瘤中心不同地区的10名男性），他们接受了遗传咨询，并有BRCA1/BRCA2测试的指征。共有200例携带BRCA1/BRCA2致病性/可能致病性变异的连续癌症患者(130例(65%)携带BRCA1致病性/可能致病性变异的患者,包括70例携带BRCA2致病性/可能的致病性变体）。其中,64.0％患有乳腺癌（其中43.8％患有三阴性疾病，大约2.3%只有HER-2突变体)，31.5%患有生殖器癌(其中92.1%患有卵巢癌,3.2%有子宫内膜，1.6%的患者以腹膜癌为原发部位，最常见的组织病理学为浆液性腺癌，14.3%的患者为子宫内膜样腺癌)，3.5%患有前列腺癌（从转移到去势耐药的中位时间为28个月），1.0%患有胰腺癌。具有BRCA1/BRCA2致病性/可能致病性变异的新诊断癌症（乳腺和卵巢）患者比以前诊断的癌症年轻（乳腺，子房,和胰腺）携带BRCA致病性/可能致病性变异的父母。我们建议，BRCA1/BRCA2致病/可能致病变异的基因筛查需要作为对有个人或家族乳腺病史的人的常规筛查。卵巢,输卵管,或者腹膜癌.此外,一旦在一个家族中鉴定出BRCA1或BRCA2种系致病变异，早期对有风险的下一代亲属进行检测可以识别出那些也有家族性致病变异的家庭成员，因此需要加强监控。
