乳腺癌易感基因1/2突变的遗传性乳腺癌研究进展  

Progress of hereditary breast cancer with breast cancer susceptibility gene 1/2 mutations

作　　者：张永梅[1] 张华一[2] 郭钢[3] Zhang Yongmei;Zhang Huayi;Guo Gang(Clinical Laboratory Center,Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China;Department of Breast Surgery,Shanxi Province Cancer Hospital,Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences,Cancer Hospital Affiliated to Shanxi Medical University,Taiyuan 030013,China;Department of Thyroid and Breast Surgery,Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China)

机构地区：[1]内蒙古医科大学附属医院临检中心,呼和浩特010050 [2]山西省肿瘤医院、中国医学科学院肿瘤医院、山西医院、山西医科大学附属肿瘤医院乳腺外科,太原030013 [3]内蒙古医科大学附属医院乳甲外科,呼和浩特010050

出　　处：《肿瘤研究与临床》2022年第12期953-956,共4页Cancer Research and Clinic

基　　金：内蒙古自治区自然科学基金(2019MS08150)。

摘　　要：遗传性乳腺癌是指由乳腺癌易感基因(BRCA)致病性胚系突变所致的恶性肿瘤。目前认为BRCA1/2基因与遗传性乳腺癌发病关系最为密切,突变会使正常功能丧失,基因组出现不稳定,继而致肿瘤发生,尤其对于胚系突变者,不仅乳腺癌患病风险极大增加,卵巢癌和其他癌症的概率也会提高。随着聚二磷酸腺苷核糖聚合酶(PARP)抑制剂的出现及临床应用,BRCA1/2基因已被作为乳腺癌治疗的新靶点。文章就BRCA1/2基因突变的遗传性乳腺癌的最新研究进行综述。Hereditary breast cancer refers to malignant tumors caused by pathogenic germline mutations of breast cancer susceptibility genes(BRCA).At present,it is believed that BRCA1/2 genes are most closely related to the development of hereditary breast cancer.Mutation will lead to loss of normal function,instability of genome,and then lead to tumorigenesis.Especially for those with germline mutations,not only the risk of breast cancer will be greatly increased,but also the probability of ovarian cancer and other cancers will be increased.With the emergence and clinical application of poly(adenosine diphosphate‑ribose)polymerase(PARP)inhibitors,BRCA1/2 genes have been regarded as new targets for the treatment of breast cancer.This article reviews the latest research of breast cancer with BRCA1/2 gene mutations.

关 键 词：乳腺肿瘤 遗传易感性 乳腺癌易感基因 聚二磷酸腺苷核糖聚合酶抑制剂 分子靶向治疗 

分 类 号：R737.9[医药卫生—肿瘤]