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生殖系突变对三阴性乳腺癌预后的影响。

Effects of Germline Mutations on Triple-Negative Breast Cancer Prognosis.

作者信息

Pogoda Katarzyna, Niwińska Anna, Sarnowska Elżbieta, Nowakowska Dorota, Jagiełło-Gruszfeld Agnieszka, Siedlecki Janusz, Nowecki Zbigniew

机构信息

Department of Breast Cancer and Reconstructive Surgery, Maria Sklodowska-Curie Institute-Oncology Center, Warsaw, Poland.

Department of Molecular and Translational Oncology, Maria Sklodowska-Curie Institute-Oncology Center, Warsaw, Poland.

出版信息

J Oncol. 2020 Jan 27;2020:8545643. doi: 10.1155/2020/8545643. eCollection 2020.

Abstract

Germline and mutations confer an increased lifetime risk for breast cancer and ovarian cancer. Several studies have investigated prognosis among mutation carriers and noncarriers, but the prognostic impact on outcomes of breast cancer patients has not been determined. The aim of this study was to determine the prognosis of TNBC patients with and without germline mutation. Among 502 patients diagnosed with TNBC between 2005 and 2008, 124 patients with a strong family history of breast cancer or ovarian cancer as well as TNBC patients diagnosed under 45 years were referred to the Genetic Counseling Unit for genetic counselling and genetic tests. In 30 (24%) of them, the mutation was detected (the most common 5382insC in 18 (60%) patients). The median follow-up of the entire group was 60 months. mutation carriers were statistically significantly younger at TNBC diagnosis compared with nonmutation patients (41 vs 47 years, respectively). Patients with the mutation had smaller tumors (stage I: 47% vs 24.5% in noncarriers), but there was no significant difference in the regional nodal status (58.5-63% with cN0). Contralateral breast cancer developed in 26.5% of mutation carriers and in 14% of noncarriers. Other primary cancers were also slightly more common in mutation carriers (16.5% vs 9.5%). The performed analysis did not show any significant differences between the groups in recurrence-free survival (=0.312). There was no significant difference between patients with or without mutation as regards overall survival (=0.649) and the risk of TNBC death (=0.333). The survival from detection of metastases was similar in two groups (=0.865). Our study demonstrated that the mutation does not affect TNBC patients' outcomes.

摘要

种系突变会增加患乳腺癌和卵巢癌的终生风险。多项研究调查了突变携带者和非携带者的预后情况,但对乳腺癌患者预后的影响尚未确定。本研究的目的是确定有无种系突变的三阴性乳腺癌(TNBC)患者的预后。在2005年至2008年间诊断为TNBC的502例患者中,124例有乳腺癌或卵巢癌家族史以及45岁以下诊断为TNBC的患者被转介到遗传咨询科进行遗传咨询和基因检测。其中30例(24%)检测到突变(18例(60%)患者中最常见的是5382insC)。整个队列的中位随访时间为60个月。与未发生突变的患者相比,突变携带者在TNBC诊断时的年龄在统计学上显著更小(分别为41岁和47岁)。发生突变的患者肿瘤较小(I期:突变携带者为47%,非携带者为24.5%),但区域淋巴结状态无显著差异(cN0为58.5 - 63%)。26.5%的突变携带者和14%的非携带者发生了对侧乳腺癌。其他原发性癌症在突变携带者中也略为常见(16.5%对9.5%)。所进行的分析未显示两组在无复发生存率方面有任何显著差异(P = 0.312)。在总生存率(P = 0.649)和TNBC死亡风险(P = 0.333)方面,有无突变的患者之间无显著差异。两组从转移灶检测后的生存率相似(P = 0.865)。我们的研究表明,该突变不影响TNBC患者的预后。

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