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对在中国通过乳腺癌筛查发现患有恶性或疑似恶性乳腺结节的城市女性的生活方式和遗传风险因素的分析。

Analysis of Lifestyle and Genetic Risk Factors in Urban Women in China Who Had Malignant or Suspected Malignant Breast Nodules Identified via Breast Cancer Screening.

作者信息

Mo Jun-Luan, Lei Lin, Li Xi, Zhou Hong-Hao, Zhang Li-Jun, Hong Wen-Xu, Yin Ji-Ye

机构信息

Shenzhen Center for Chronic Disease Control, Shenzhen, PR China.

Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha, PR China.

出版信息

Breast Care (Basel). 2025 Mar 21:1-13. doi: 10.1159/000545279.

Abstract

OBJECTIVE

Breast cancer seriously endangers women's health. It is very important to analyze the lifestyle and genetic risk factors for people with malignant or suspected malignant nodules in breast cancer screening for the prevention of breast cancer.

METHODS

A total of 3,142 urban female residents in southern China completed a clinical screening for breast cancer. The participants completed questionnaires on living environmental factors and underwent clinical imaging examinations and genetic testing of 73 SNP loci. According to the BI-RADS classification results, the population was divided into positive and negative groups. Key factors were identified through intergroup differences and association analysis. Lifestyle models, SNP models, and lifestyle + PRS models were constructed. ROC curves and nomograms were used to evaluate the classification effect of the model.

RESULTS

There were 10 lifestyle factors that were significantly different between the groups, 4 of which were significantly associated with positive breast imaging results ( < 0.05), including age (OR = 0.972, 95% CI: 0.957-0.988), duration of breastfeeding (0.982, 0.970-0.994), history of benign breast disease (1.838, 1.299-2.599), and high-fat diet (1.507, 1.166-1.947). There were 5 significant SNPs, including -rs1799955, -rs4833095, -rs10822013, -rs4973768, and -rs144848. The AUC values for the lifestyle, SNP, and lifestyle + PRS models were 0.625, 0.598, and 0.633, respectively. The C index of the lifestyle + PRS model was 0.633.

CONCLUSION

Advocating breastfeeding, reducing the intake of high-fat diets, and protecting breast health may help lower the risk of positive results in breast screenings. The combination of lifestyle factors and genetic factors can enhance the predictive power of the model.

摘要

目的

乳腺癌严重威胁女性健康。在乳腺癌筛查中,分析恶性或疑似恶性结节患者的生活方式和遗传风险因素对预防乳腺癌非常重要。

方法

中国南方共3142名城市女性居民完成了乳腺癌临床筛查。参与者完成了关于生活环境因素的问卷调查,并接受了临床影像检查和73个单核苷酸多态性(SNP)位点的基因检测。根据乳腺影像报告和数据系统(BI-RADS)分类结果,将人群分为阳性和阴性组。通过组间差异和关联分析确定关键因素。构建了生活方式模型、SNP模型和生活方式+多基因风险评分(PRS)模型。采用受试者工作特征(ROC)曲线和列线图评估模型的分类效果。

结果

两组之间有10个生活方式因素存在显著差异,其中4个与乳腺影像阳性结果显著相关(<0.05),包括年龄(比值比[OR]=0.972,95%置信区间[CI]:0.957-0.988)、母乳喂养持续时间(0.982,0.970-0.994)、乳腺良性疾病史(1.838,1.299-2.599)和高脂饮食(1.507,1.166-1.947)。有5个显著的SNP,包括-rs1799955、-rs4833095、-rs10822013、-rs4973768和-rs144848。生活方式、SNP和生活方式+PRS模型的曲线下面积(AUC)值分别为0.625、0.598和0.633。生活方式+PRS模型的一致性指数(C指数)为0.633。

结论

提倡母乳喂养、减少高脂饮食摄入以及保护乳腺健康可能有助于降低乳腺筛查阳性结果的风险。生活方式因素和遗传因素的结合可以提高模型的预测能力。

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A polygenic risk score for breast cancer risk in a Taiwanese population.台湾人群中乳腺癌风险的多基因风险评分。
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