PALB2基因与乳腺癌的关系

O. Maioru, L. Pop, V. Rădoi, R. Ursu, N. Bacalbaşa, I. Bălescu, Ioan Dumitru Suciu
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引用次数: 0

摘要

乳腺癌是全世界妇女中最常见的恶性疾病,已被广泛证明具有很强的遗传易感性。因此,它似乎最常以常染色体显性方式遗传,最常见的种系基因变异以BRCA 1和BRCA 2为代表,其次是TP53、CDH1、PTEN和STK1。最近,PALB2基因已被证明具有乳腺癌发展的中等风险。本文介绍了PALB2基因的重要性和患病率,并分析了乳腺癌的风险(基于各种研究)。为了更好地管理和了解风险,我们详细介绍了PALB2基因突变导致乳腺癌的最新监测和治疗方案。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
PALB2 gene in breast cancer
Breast cancer represents the most commonly encountered form of malignant disease in women worldwide, which has been widely demonstrated to have a strong genetic predisposition. Therefore, it seems that most often it is inherited in an autosomal dominant manner, the most commonly encountered germline gene variant being represented by BRCA 1 and BRCA 2, followed by TP53, CDH1, PTEN and STK1. Recently PALB2 gene has been demonstrated to confer a moderate risk for breast cancer development. In this article the importance and the prevalence of the PALB2 gene is presented as well as the breast cancer risk is analyzed (based on various studies). To better manage and understand the risks we have detailed the newest monitoring and treatment options regarding a mutation in the PALB2 gene that leads to breast cancer.
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