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三阴性乳腺癌中 基因的突变携带情况与家族史的关系:来自土耳其一家诊断中心的经验

The Relationship of Mutation Carriage of and Family History in Triple-Negative Breast Cancer: Experience from a Diagnostic Center in Turkey.

作者信息

Duzkale Neslihan, Kandemir Olcay

机构信息

Department of Medical Genetic, University of Health Sciences Turkey, Ankara Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey.

Clinic of Medical Pathology, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey.

出版信息

Eur J Breast Health. 2021 Mar 31;17(2):137-144. doi: 10.4274/ejbh.galenos.2020.5909. eCollection 2021 Apr.

DOI:10.4274/ejbh.galenos.2020.5909
PMID:33870113
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8025727/
Abstract

OBJECTIVE

genes play a role in the etiopathogenesis of 10%-30% of triple-negative breast cancer (TNBC). This study aims to investigate the genes and the demographic and clinicopathological features in patients with TNBC. The study also examined the impact of cancer history of TNBC individuals' relatives on the risk of mutation carriership rate.

MATERIALS AND METHODS

The genes of 65 women diagnosed with TNBC between 2011 and 2017 were investigated using next-generation sequencing. We analyzed the correlations of patients' demographic and clinicopathologic parameters and family history with mutation status. We used the χ-test, t-test, Mann-Whitney U test, and logistic regression statistical methods.

RESULTS

The mutation carrier rate was 16.9%. Patients who had mutations were compared with those who did not in terms of demographic and clinicopathological parameters. In the mutation carrier group, the Ki-67 index and the number of relatives with cancer were higher than the non-carrier group. Logistic regression analysis revealed that when the number of relatives with breast or ovarian cancer was ≥2, the risk of carrying the mutation increased by 15-fold. Regardless of the type of cancer (including cancers in other organs besides breast or ovary), the risk of carrying the mutation increased 1.3 times with each increase in the number of relatives with cancer for the patient with TNBC.

CONCLUSION

In cases with a diagnosis of TNBC, a significant relationship exists between the number of relatives with cancer in the family history and the risk of carrying mutations in the genes. This relationship can be confirmed further by large-scale studies with more cases.

摘要

目的

基因在10%-30%的三阴性乳腺癌(TNBC)的发病机制中起作用。本研究旨在调查TNBC患者的相关基因以及人口统计学和临床病理特征。该研究还考察了TNBC患者亲属的癌症病史对突变携带率风险的影响。

材料与方法

使用二代测序技术对2011年至2017年间确诊为TNBC的65名女性的相关基因进行研究。我们分析了患者的人口统计学和临床病理参数以及家族史与突变状态之间的相关性。我们使用了χ检验、t检验、曼-惠特尼U检验和逻辑回归统计方法。

结果

突变携带率为16.9%。在人口统计学和临床病理参数方面,对有突变的患者与无突变的患者进行了比较。在突变携带者组中,Ki-67指数和患癌亲属数量高于非携带者组。逻辑回归分析显示,当患乳腺癌或卵巢癌的亲属数量≥2时,携带突变的风险增加15倍。对于TNBC患者,无论癌症类型(包括除乳腺或卵巢外其他器官的癌症)如何,患癌亲属数量每增加一人,携带突变的风险增加1.3倍。

结论

在诊断为TNBC的病例中,家族史中患癌亲属的数量与相关基因突变携带风险之间存在显著关系。这种关系可通过更多病例的大规模研究进一步证实。