An overview of the research progress of BRCA gene mutations in breast cancer

被引：16

作者：

Wan, Andi ^{[1
]}

Zhang, Guozhi ^{[1
]}

Ma, Dandan ^{[1
]}

Zhang, Yi ^{[1
]}

Qi, Xiaowei ^{[1
]}

机构：

[1] Army Med Univ, Southwest Hosp, Dept Breast & Thyroid Surg, Chongqing, Peoples R China

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER | 2023年 / 1878卷 / 04期

关键词：

BRCA gene; Breast cancer; Breast conserving surgery; Platinum drugs; PARP inhibitors; CONTRALATERAL PROPHYLACTIC MASTECTOMY; PATHOLOGICAL COMPLETE RESPONSE; STANDARD NEOADJUVANT CHEMOTHERAPY; RECOMBINATION DEFICIENCY HRD; DNA-DAMAGE RESPONSE; GERMLINE MUTATIONS; PHASE-II; FAMILY-HISTORY; CHINESE WOMEN; RISK;

D O I：

10.1016/j.bbcan.2023.188907

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The breast cancer susceptibility gene (BRCA) is an important tumor suppressor gene, including BRCA1 and BRCA2, a biomarker that assesses the risk of breast cancer and influences a patient's individualized treatment options. BRCA1/2 mutation (BRCAm) increases the risk of breast cancer. However, breast-conserving surgery is still an option for BRCAm, and prophylactic mastectomy and nipple-sparing mastectomy may also reduce the risk of breast cancer. BRCAm is sensitive to Poly (ADP-ribose) polymerase inhibitor (PARPi) therapy due to specific types of DNA repair defects, and its combination with other DNA damage pathway inhibitors and endocrine therapy and immunotherapy are also used for the treatment of BRCAm breast cancer. The current treatment and research progress of BRCA1/2 mutant breast cancer in this review provides a basis for the individualized treatment of patients with this type of breast cancer.

引用

页数：11

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