Progress in clinical diagnosis and treatment of germline BRCA1/2 mutation-related breast cancer

VernacularTitle:BRCA1/2胚系突变乳腺癌临床诊疗进展
Author: Wang JIA ¹ ; Wang SHAN ; Jin FENG
Author Information

1. 大连医科大学附属第二医院乳腺外科(辽宁省大连市 116000)
Keywords: germline BRCA1/2 mutation(gBRCA1/2m); surgical treatment; drug therapy; prognosis
From: Chinese Journal of Clinical Oncology 2024;51(18):957-962
CountryChina
Language:Chinese
Abstract: Breast cancer susceptibility gene 1/2(BRCA1/2)are important tumor-suppressor genes.Germline BRCA1/2 mutation(gBRCA1/2m)carriers have a significantly increased risk of breast,ovarian,and prostate cancer and other malignancies.In recent years,the popularization of next-generation sequencing technology and the development of targeted drugs have led to changes in the diagnosis and treatment of breast cancer patients with gBRCA1/2m.This article reviews the latest progress in research on gBRCA1/2m-related breast can-cer from the perspective of clinical characteristics,the standardization of genetic testing,surgical treatment,chemotherapy,and targeted therapy,to provide evidence for the clinical diagnosis and treatment of breast cancer patients with gBRCA1/2m.