Ho PJ, et al. BMC Med. 2022 Apr 26;20(1):150. 

可以根据家族史、遗传和非遗传风险因素对女性个体患乳腺癌的风险进行分层，但这些风险预测因素之间的重叠程度尚不清楚

研究分析7600名年龄在30岁至75岁之间的亚洲乳腺癌患者，基于阳性家族史进行高危乳腺癌患者的筛查

家族史、遗传和非遗传风险分层工具可互为补充，以更准确地筛查出高危乳腺癌女性

Abstract

Background: Family history, and genetic and non-genetic risk factors can stratify women according to their individual risk of developing breast cancer. The extent of overlap between these risk predictors is not clear.

Methods: In this case-only analysis involving 7600 Asian breast cancer patients diagnosed between age 30 and 75 years, we examined identification of high-risk patients based on positive family history, the Gail model 5-year absolute risk [5yAR] above 1.3%, breast cancer predisposition genes (protein-truncating variants [PTV] in ATM, BRCA1, BRCA2, CHEK2, PALB2, BARD1, RAD51C, RAD51D, or TP53), and polygenic risk score (PRS) 5yAR above 1.3%.

Results: Correlation between 5yAR (at age of diagnosis) predicted by PRS and the Gail model was low (r=0.27). Fifty-three percent of breast cancer patients (n=4041) were considered high risk by one or more classification criteria. Positive family history, PTV carriership, PRS, or the Gail model identified 1247 (16%), 385 (5%), 2774 (36%), and 1592 (21%) patients who were considered at high risk, respectively. In a subset of 3227 women aged below 50 years, the four models studied identified 470 (15%), 213 (7%), 769 (24%), and 325 (10%) unique patients who were considered at high risk, respectively. For younger women, PRS and PTVs together identified 745 (59% of 1276) high-risk individuals who were not identified by the Gail model or family history.

Conclusions: Family history and genetic and non-genetic risk stratification tools have the potential to complement one another to identify women at high risk

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