BRCA基因突变型乳腺癌研究进展

Research progress of breast cancer with BRCA gene mutation

乳腺癌是女性最常见的恶性肿瘤,BRCA基因是乳腺癌最常见的易感基因,与遗传性乳腺癌的发生密切相关,BRCA基因在维护染色体完整性方面具有重要作用。从功能上看,BRCA基因是肿瘤的抑制基因,它的关键区域突变使其抑制功能失去,因而导致肿瘤的发生。目前伴随诊断和靶向治疗是癌症领域研究的热点,BRCA基因突变型为家族性乳腺癌治疗的重要靶点,为其个性化治疗提供了新方向。主要对BRCA基因突变型乳腺癌临床诊断方法及相关治疗进行综述。

Breast cancer is the most common female malignant tumor.The BRCA gene is the most common susceptibility gene in breast cancer,which is closely related to the occurrence of hereditary breast cancer,and plays an important role in the maintenance of chromosomal integrity.From a functional point of view,BRCA gene is a tumor suppressor gene and loss-of-function mutations in critical areas may cause tumorigenesis.Currently,companion diagnostics and targeted therapy are hotspots in the field of cancer.The mutation of BRCA gene is the important target for the treatment of familial breast cancer which provides a new direction for individualized treatment.This paper mainly reviews the clinical diagnosis and treatment of BRCA-positive breast cancer.