Chen Xiangyu, Xiao Heng, Ning Shuangcheng, Liu Bang, Zhou Huashan, Fu Ting
Department of Pathology Changsha Hospital for Maternal and Child Health Care Hunan Normal University, Changsha, Hunan, China.
Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control Changsha Hospital for Maternal and Child Care Hunan Normal University, Changsha, Hunan, China.
Breast J. 2024 Jul 14;2024:7278636. doi: 10.1155/2024/7278636. eCollection 2024.
Female breast cancer is the most common and the fifth deadliest cancer worldwide. It is influenced by a combination of genetic, hormonal, and environmental factors. The excision repair cross-complementation group 3 gene () has recently been identified as a breast cancer susceptibility gene in various cohorts of different geographical and ethnic origin. To explore the role of mutations in breast cancer development and pathological diagnosis, genetic analysis was conducted in 291 patients and 291 controls from mainland China. Bioinformatic analysis and immunohistochemistry (IHC) were performed. A novel mutation p.Y116X was identified in a breast cancer family, while no frequency bias for the genotype and allele of rs754010782 and rs371627165 was observed (all > 0.05). Bioinformatic analysis revealed that expression was negatively associated with estrogen receptor (ER), progesterone receptor (PR), nontriple-negative status, and nodal status of breast cancers. amplifications and deep deletions primarily occurred in breast invasive cancer not otherwise specified (NOS) and metaplastic breast cancer, respectively. The decreased ERCC3 expression in tumor tissues of patient with p.Y116X mutation was found by IHC. The 3 mutation p.Y116X may increase breast cancer risk in the Han-Chinese population. exhibits potential as a biomarker for the pathological diagnosis of breast cancer.
女性乳腺癌是全球最常见且致死率排名第五的癌症。它受到遗传、激素和环境因素的综合影响。切除修复交叉互补组3基因（ERCC3）最近在不同地理和种族来源的多个队列中被确定为乳腺癌易感基因。为了探究ERCC3突变在乳腺癌发生发展及病理诊断中的作用，对来自中国大陆的291例患者和291例对照进行了基因分析，并进行了生物信息学分析和免疫组织化学（IHC）检测。在一个乳腺癌家族中鉴定出一种新的ERCC3突变p.Y116X，而未观察到rs754010782和rs371627165的基因型和等位基因存在频率偏差（所有P>0.05）。生物信息学分析显示，ERCC3表达与雌激素受体（ER）、孕激素受体（PR）、非三阴性状态及乳腺癌的淋巴结状态呈负相关。ERCC3扩增和深度缺失分别主要发生在未另行规定的乳腺浸润性癌（NOS）和化生性乳腺癌中。通过免疫组织化学发现p.Y116X突变患者肿瘤组织中ERCC3表达降低。ERCC3突变p.Y116X可能会增加汉族人群患乳腺癌的风险。ERCC3有潜力作为乳腺癌病理诊断的生物标志物。
