Comparative study on the pathological features of<em>BRCA</em>1/2 mutation and non-<em>BRCA</em>1/2 mutation breast cancers in China

朱信屹; 秦广琪; 孙孟红; 沈镇宙; 邵志敏

doi:10.19401/j.cnki.1007-3639.2019.02.008

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Comparative study on the pathological features ofBRCA1/2 mutation and non-BRCA1/2 mutation breast cancers in China

更新时间：2026-01-27

- Comparative study on the pathological features ofBRCA1/2 mutation and non-BRCA1/2 mutation breast cancers in China
- China Oncology Vol. 29, Issue 2, Pages: 142-147(2019)
- 作者机构：
  
  1. 复旦大学附属肿瘤医院乳腺外科，复旦大学上海医学院肿瘤学系,上海,200032
  2. 复旦大学附属肿瘤医院组织库，复旦大学上海医学院肿瘤学系,上海,200032
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2019.02.008
  CLC： R737.9
- Published Online：25 March 2019，
  
  Published：25 March 2019
- 稿件说明：
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朱信屹，田田，蔡旭，秦广琪，孙孟红，吴炅，沈镇宙，邵志敏，胡震. 中国

朱信屹, 秦广琪, 孙孟红, et al. Comparative study on the pathological features ofBRCA1/2 mutation and non-BRCA1/2 mutation breast cancers in China[J]. China Oncology, 2019, 29(2): 142-147.
朱信屹，田田，蔡旭，秦广琪，孙孟红，吴炅，沈镇宙，邵志敏，胡震. 中国 DOI： 10.19401/j.cnki.1007-3639.2019.02.008.

朱信屹, 秦广琪, 孙孟红, et al. Comparative study on the pathological features ofBRCA1/2 mutation and non-BRCA1/2 mutation breast cancers in China[J]. China Oncology, 2019, 29(2): 142-147. DOI： 10.19401/j.cnki.1007-3639.2019.02.008.

摘要

背景与目的：BRCA1和BRCA2是两个最主要的遗传性乳腺癌相关基因，本研究旨在发现中国BRCA1/2突变阳性乳腺癌的病理学特征。方法：本研究入组了2012—2016年间287例接受过BRCA1/2基因突变检测的乳腺癌，对其中BRCA1/2突变阳性和突变阴性患者的组织病理学和免疫组织化学检测结果进行了比较性研究。结果：在287例乳腺癌中，66例为BRCA1突变阳性，47例为BRCA2突变阳性，174例为BRCA1/2突变阴性。BRCA1突变的乳腺癌表现为更高的组织学分级（P＜0.001），更高比例的三阴性乳腺癌（72.7%，P＜0.001）。BRCA1突变阳性和BRCA2突变阳性的乳腺癌中人表皮生长因子受体2（human epidermal growth factor receptor 2，HER2）的阳性表达率较BRCA1/2突变阴性的乳腺癌更低（P＜0.001）。BRCA1突变阳性乳腺癌基底标志物细胞角蛋白5/6（cytokeratin 5/6，CK5/6）和表皮生长因子受体（epidermal growth factor receptor，EGFR）的阳性率为50%，明显高于其他两组（P＜0.001），雄激素受体（androgen receptor，AR）的阳性率也更低（P＜0.05）。结论：中国BRCA1突变阳性乳腺癌更多为三阴性乳腺癌，具有CK5/6和EGFR的阳性率更高等特点，并且BRCA1和BRCA2突变阳性乳腺癌中HER2受体阳性率也更低。

Abstract

Background and purpose: BRCA1 and BRCA2 are two most common genes associated with hereditary breast cancers. Our research intended to discover the pathologic features of Chinese breast cancers with BRCA1/2 mutations. Methods: We included 287 breast cancers between 2011 and 2017

and BRCA1/2 germline mutation tests were carried out. The pathologic features of each patient were collected at Department of Pathology in Fudan University Shanghai Cancer Center for comparative study. Results: Of the 287 breast cancers

66 cases were BRCA1 mutation positive

47 cases were BRCA2 mutation positive and 174 cases were BRCA1/2 mutation negative. BRCA1 mutation breast cancer had higher nuclear grade tumors than the other two groups (P0.001)

72.7% of BRCA1 mutation breast cancers were

whereas 25.5% of BRCA2 and 19.0% of non-BRCA1/2 mutation breast cancers were triple negative (P0.001). BRCA1 and BRCA2 mutated breast cancers had lower human epidermal growth factor receptor 2(HER2) expression than non-BRCA1/2 mutated breast cancers (P0.001). The positive expressions of cytokeratin 5/6 (CK5/6) and epidermal growth factor receptor (EGFR) in BRCA1 mutation breast cancer were about 50%

significantly higher than those of the other two groups (P0.001)

and androgen receptor (AR) positive was less frequently seen in BRCA1 mutation breast cancers. Conclusion: These results suggest that BRCA1 mutation-associated breast cancers had clinical pathologic characteristics

such as triple negative

more positive CK5/6 or EGFR status. BRCA1/2 mutated breast cancers had lower HER2 expression.

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Comparative study on the pathological features ofBRCA1/2 mutation and non-BRCA1/2 mutation breast cancers in China

DOI：10.19401/j.cnki.1007-3639.2019.02.008

摘要

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