开发一个乳腺癌风险预测模型,整合单基因,多基因和流行病风险
Sarah S Kalia1, Nicholas J Boddicker2, Siddhartha Yadav2
1Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.
概括
结合遗传和生活方式因素,可以改善乳腺癌风险预测. 这种方法可以识别可能不需要密集查的个体,即使有遗传倾向.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 流行病学 流行病学
背景情况:
- 乳腺癌风险受到单基因,多基因和流行病学因素的影响.
- 之前的风险模型对综合风险因素影响的评估有限.
研究的目的:
- 开发一个乳腺癌风险模型,整合单基因,多基因和流行病学风险因素.
- 评估这种风险分层综合模型的临床实用性.
主要方法:
- 使用了来自CARRIERS联盟的数据 (23,518个案例,22,832个对照).
- 在六个乳腺癌基因中包含的致病变体 (PV),105-SNP多基因风险评分 (PRS) 和流行病风险评分 (ERS).
主要成果:
- 流行病学风险评分 (ERS) 显著分层风险,特别是当与PRS结合时.
- 患有CHEK2致病变体 (PVs) 的女性表现出不同的终身风险,尽管存在PV,但有些人预测风险低 (<20%),可能会影响查资格.
- 综合ERS和PRS识别了与一般人群相似的预测风险的个体,而不论家族病史.
结论:
- 流行病学风险评分 (ERS),单独和结合多基因风险评分 (PRS),有助于临床相关的乳腺癌风险分层.
- 整合各种风险因素为个性化乳腺癌查和预防策略提供了潜力.
相关概念视频
Cancer Prevention
6.1K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.1K
Cancer Survival Analysis
334
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
334
Tumor Progression
6.3K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.3K


