PDF(Pubmed)
Abstract：
Despite the high prevalence of TP53 pathogenic variants (PV) carriers in the South and Southeast regions of Brazil, germline genetic testing for hereditary breast cancer (HBC) is not available in the Brazilian public health system, and the prevalence of Li-Fraumeni syndrome (LFS) is not well established in other regions of Brazil. We assessed the occurrence of TP53 p.R337H carriers among women treated for breast cancer (BC) between January 2021 and January 2022 at public hospitals of Brasilia, DF, Brazil. A total of 180 patients who met at least one of the NCCN criteria for HBC underwent germline testing; 44.4% performed out-of-pocket germline multigene panel testing, and 55.6% were tested for the p.R337H variant by allelic discrimination PCR. The median age at BC diagnosis was 43.5 years, 93% had invasive ductal carcinoma, 50% had estrogen receptor-positive/HER2 negative tumors, and 41% and 11% were diagnosed respectively at stage III and IV. Two patients (1.11%) harbored the p.R337H variant, and cascade family testing identified 20 additional carriers. The TP53 p.R337H detection rate was lower than that reported in other studies from south/southeast Brazil. Nonetheless, identifying TP53 PV carriers through genetic testing in the Brazilian public health system could guide cancer treatment and prevention.
摘要：
尽管巴西南部和东南部地区TP53致病变种（PV）携带者的患病率很高，遗传性乳腺癌（HBC）的生殖系基因检测在巴西公共卫生系统中不可用，Li-Fraumeni综合征（LFS）的患病率在巴西其他地区尚未得到很好的证实。我们评估了2021年1月至2022年1月在巴西利亚公立医院接受乳腺癌（BC）治疗的女性中TP53p.R337H携带者的发生率。DF,巴西。总共180名符合至少一种NCCNHBC标准的患者接受了种系测试；44.4%的患者进行了自掏腰包种系多基因组测试，55.6%的p.R337H变异体通过等位基因鉴别PCR检测。BC诊断时的中位年龄为43.5岁，93%有浸润性导管癌,50%有雌激素受体阳性/HER2阴性肿瘤，在III期和IV期诊断分别为41％和11％。两名患者（1.11%）携带p.R337H变异，级联家族测试确定了另外20个运营商。TP53p.R337H检出率低于巴西南部/东南部的其他研究报告。尽管如此，在巴西公共卫生系统中通过基因检测识别TP53PV携带者可以指导癌症的治疗和预防。
