Chen Xuechen, Hoffmeister Michael, Brenner Hermann
College of Pharmacy, Jinan University, Guangzhou, People's Republic of China.
Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
JNCI Cancer Spectr. 2025 Apr 30;9(3). doi: 10.1093/jncics/pkaf056.
Breast cancer screening starting at age 50 has been implemented in many countries. A recent recommendation of the US Preventive Services Task Force recommends lowering the starting age of breast cancer screening to 40. We aimed to assess the potential use of a polygenic risk score (PRS) for defining risk-adapted starting ages for women in the United States and various European countries as an alternative to population-wide lowering of the starting age.
We determined 5-year cumulative risks of breast cancer for women at individual ages between 30 and 50 years in the United States and 4 large European countries (Germany, the UK, Italy, and France) based on the Surveillance, Epidemiology, and End Results program and GLOBOCAN 2022 database. Using relative risks for women within certain percentile ranges of a well-established PRS based on 313 risk variants (PRS313), we determined at which ages women with higher PRS313 would reach the breast cancer risk at age 50 of those at "medium" (40th to 60th percentile) risk.
Non-Hispanic White women in the United States in PRS313 percentile categories 60-80, 80-90, 90-95, 95-99, and >99 would reach the medium 5-year cumulative risk at age 50 already at ages 43, 41, 39, 37, and 34, respectively. Despite some variation in breast cancer incidence, risk-adapted starting ages of screening were similar across European countries.
Consideration of a PRS would lead to risk-adapted starting ages of screening for breast cancer rather than a uniform advancement of starting age for White women in the United States and European countries.
许多国家已实施从50岁开始的乳腺癌筛查。美国预防服务工作组最近的一项建议是将乳腺癌筛查的起始年龄降至40岁。我们旨在评估多基因风险评分（PRS）在美国和欧洲各国女性中用于确定风险适应性起始年龄的潜在用途，以此作为在全国范围内降低起始年龄的替代方案。
我们根据监测、流行病学和最终结果计划以及全球癌症观测站2022数据库，确定了美国和4个欧洲大国（德国、英国、意大利和法国）30至50岁女性在各个年龄的5年乳腺癌累积风险。基于313个风险变异（PRS313）的既定PRS在特定百分位数范围内的女性相对风险，我们确定了PRS313较高的女性在哪个年龄会达到“中等”（第40至60百分位数）风险女性在50岁时的乳腺癌风险。
在美国，PRS313百分位数类别为60 - 80、80 - 90、90 - 95、95 - 99和>99的非西班牙裔白人女性，分别在43岁、41岁、39岁、37岁和34岁时就已达到50岁时中等的5年累积风险。尽管乳腺癌发病率存在一些差异，但欧洲各国风险适应性筛查起始年龄相似。
考虑PRS将导致乳腺癌筛查的风险适应性起始年龄，而不是美国和欧洲国家白人女性统一提前起始年龄。
