乳腺癌易感基因相关研究现状

Research status of breast cancer susceptibility genes

乳腺癌是女性最常见的恶性肿瘤之一。乳腺癌的发生是一个多因素、多步骤的过程,其中基因水平变化在乳腺癌的发生和发展中起着重要的作用。目前对于乳腺癌的相关研究诸多,随着对乳腺癌分子遗传层面的认知不断深入,遗传易感基因的突变与遗传性乳腺癌发生发展的密切关系逐渐显现。了解相关易感基因并对致病基因突变及基因多态性高危位点进行鉴定,旨在促进基础研究向个体化医疗转变,从而实现乳腺癌早期筛查、分子分型、预后评估和个体化治疗。本文就遗传性乳腺癌易感基因的研究现状进行综述。

Breast cancer is one of the most common malignancies in women.The occurrence of breast cancer is a multi-factor and multi-step process,in which changes in gene levels play an important role in the occurrence and development of breast cancer.There are many related researches on breast cancer at present.With the deeper understanding of the molecular genetic level of breast cancer,the close relationship between mutations of inherit susceptibility genes and the occurrence and development of hereditary breast cancer gradually appears.Understand related susceptible genes and identify high-risk sites for disease-causing gene mutations and gene polymorphisms is to promote the transition from basic research to personalized medicine,thereby achieving early screening,molecular typing,prognostic assessment,and individualization of breast cancer treatment.This article reviews the research status of hereditary breast cancer susceptibility genes.