Huang Guoding, Lu Hongquan, Chen Qizhu, Huang Xinting
Department of Oncology, The Central Hospital of Western Area of Hainan, Danzhou, Hainan, People's Republic of China.
Int J Gen Med. 2022 Aug 24;15:6783-6789. doi: 10.2147/IJGM.S378706. eCollection 2022.
We aimed to evaluate the prevalence of BRCA1 and BRCA2 mutations in Chinese populations with breast cancer. Factors associated with BRCA1 and BRCA2 mutations are also evaluated.
This was a cross-sectional study, and patients with breast cancer were included. Data on clinical characteristics, information of breast cancer, and BRCA1 and BRCA2 mutations were extracted. Patients were divided into the carrier and noncarrier groups.
A total of 368 patients were included. Compared to the noncarrier group (n = 240), patients in the carrier group (n = 128) were younger and more likely to have breast cancer at age <40 years. Of the overall 128 patients in the carrier groups, 58 had BRCA1 mutation and 70 had BRCA2 mutation. Among patients with early onset breast cancer, there was no difference in the prevalence of BRCA1 and BRCA2 (20.7% vs 17.1%, P = 0.35). While among patients with a family history of breast/ovarian cancer, BRCA2 mutation was more prevalent than BRCA1 mutation (54.3% vs 44.8%, P = 0.01); and among patients with triple-negative breast cancer, BRCA1 mutation was more prevalent than BRCA2 mutation (34.5% vs 28.6%, P = 0.04). After adjusting for covariates, factors associated with BRCA1 mutation included breast cancer diagnosed <40 years, tumor size >2 cm, and lymph node metastasis; and after adjusting for covariates, factors associated with BRCA2 mutation included age, tumor size >2 cm, and triple-negative breast cancer.
The prevalence of BRCA1 and BRCA2 mutations varied according to three specific subgroups. Factors associated with BRCA1 and BRCA2 mutations were differential.
我们旨在评估中国乳腺癌人群中BRCA1和BRCA2基因突变的患病率。同时也评估与BRCA1和BRCA2基因突变相关的因素。
这是一项横断面研究，纳入了乳腺癌患者。提取了临床特征、乳腺癌信息以及BRCA1和BRCA2基因突变的数据。患者被分为携带者组和非携带者组。
共纳入368例患者。与非携带者组（n = 240）相比，携带者组（n = 128）的患者更年轻，且更有可能在40岁之前患乳腺癌。在携带者组的128例患者中，58例有BRCA1基因突变，70例有BRCA2基因突变。在早发性乳腺癌患者中，BRCA1和BRCA2基因的患病率无差异（20.7%对17.1%，P = 0.35）。而在有乳腺癌/卵巢癌家族史的患者中，BRCA2基因突变比BRCA1基因突变更普遍（54.3%对44.8%，P = 0.01）；在三阴性乳腺癌患者中，BRCA1基因突变比BRCA2基因突变更普遍（34.5%对28.6%，P = 0.04）。在调整协变量后，与BRCA1基因突变相关的因素包括40岁之前诊断出的乳腺癌、肿瘤大小>2 cm以及淋巴结转移；在调整协变量后，与BRCA2基因突变相关的因素包括年龄、肿瘤大小>2 cm以及三阴性乳腺癌。
BRCA1和BRCA2基因突变的患病率因三个特定亚组而异。与BRCA1和BRCA2基因突变相关的因素有所不同。
