학술논문
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Document Type
Article
Author
Ho, Peh Joo; Ho, Weang Kee; Khng, Alexis J.; Yeoh, Yen Shing; Tan, Benita Kiat-Tee; Tan, Ern Yu; Lim, Geok Hoon; Tan, Su-Ming; Tan, Veronique Kiak Mien; Yip, Cheng-Har; Mohd-Taib, Nur-Aishah; Wong, Fuh Yong; Lim, Elaine Hsuen; Ngeow, Joanne; Chay, Wen Yee; Leong, Lester Chee Hao; Yong, Wei Sean; Seah, Chin Mui; Tang, Siau Wei; Ng, Celene Wei Qi
Source
Subject
*FAMILY history (Medicine)
*BREAST cancer
*FAMILY history (Sociology)
*BRCA genes
*DISEASE risk factors
*HORMONE receptor positive breast cancer
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Language
ISSN
1741-7015
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. [ABSTRACT FROM AUTHOR]