Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.
J Breast Cancer. 2014 Jun;17(2):129-35. doi: 10.4048/jbc.2014.17.2.129. Epub 2014 Jun 27.
Mutations in BRCA genes are the main cause of hereditary breast cancer in Korea. The aim of this study was to investigate the characteristics of breast cancers involving BRCA1 (BRCA1 group) and BRCA2 (BRCA2 group) mutations.
We retrospectively reviewed the medical records of patients with BRCA1 (BRCA1 group) or BRCA2 (BRCA2 group) mutation positive breast cancer from multiple centers and compared the data to that of the Korean Breast Cancer Society registry (registry group).
The patients of the BRCA1 group were diagnosed at a younger age (median age, 37 years) and had tumors of higher histological (61.3% with histological grade 3) and nuclear (37.5% with nuclear grade 3) grade than those of the registry group. In addition, the frequency of ductal carcinoma in situ in the BRCA1 group was lower (3.7%) than in the registry group, and the BRCA1 group were more likely to be triple-negative breast cancer (61.3%). Patients in the BRCA2 group were also younger at diagnosis (mean age, 41 years) and were more likely to have involvement of the axillary node than the registry group (45.5% vs. 33.5%, p=0.002). The BRCA1 and BRCA2 groups did not show a correlation between tumor size and axillary node involvement.
We report the characteristics of BRCA mutation positive breast cancer patients in the Korean population through multicenter data and nation-wide breast cancer registry study. However, BRCA-mutated breast cancers appear highly complex, and further research on their molecular basis is needed in Korea.
BRCA 基因突变是韩国遗传性乳腺癌的主要原因。本研究旨在探讨涉及 BRCA1（BRCA1 组）和 BRCA2（BRCA2 组）突变的乳腺癌的特征。
我们回顾性地审查了来自多个中心的 BRCA1（BRCA1 组）或 BRCA2（BRCA2 组）突变阳性乳腺癌患者的病历，并将数据与韩国乳腺癌学会登记处（登记处组）的数据进行比较。
BRCA1 组患者的诊断年龄较小（中位数年龄为 37 岁），肿瘤的组织学（61.3%为组织学 3 级）和核（37.5%为核 3 级）分级较高。此外，BRCA1 组中导管原位癌的频率较低（3.7%），BRCA1 组更可能是三阴性乳腺癌（61.3%）。BRCA2 组患者的诊断年龄也较小（平均年龄为 41 岁），且腋窝淋巴结受累的比例高于登记处组（45.5%比 33.5%，p=0.002）。BRCA1 和 BRCA2 组之间肿瘤大小与腋窝淋巴结受累之间没有相关性。
我们通过多中心数据和全国性乳腺癌登记研究报告了韩国人群中 BRCA 突变阳性乳腺癌患者的特征。然而，BRCA 突变型乳腺癌似乎非常复杂，韩国需要进一步研究其分子基础。
