• Bmc Med · Apr 2022

    Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

    • Peh Joo Ho, Weang Kee Ho, Alexis J Khng, Yen Shing Yeoh, Benita Kiat-Tee Tan, Ern Yu Tan, Geok Hoon Lim, Su-Ming Tan, TanVeronique Kiak MienVKMDepartment of Breast Surgery, Singapore General Hospital, Singapore, Singapore.Division of Surgery and Surgical Oncology, National Cancer Centre Singapore, Singapore, Singapore., Cheng-Har Yip, Nur-Aishah Mohd-Taib, Fuh Yong Wong, Elaine Hsuen Lim, Joanne Ngeow, Wen Yee Chay, Lester Chee Hao Leong, Wei Sean Yong, Chin Mui Seah, Siau Wei Tang, NgCelene Wei QiCWQDepartment of Surgery, University Surgical Cluster, National University Hospital, Singapore, Singapore., Zhiyan Yan, Jung Ah Lee, Kartini Rahmat, Tania Islam, Tiara Hassan, Mei-Chee Tai, Chiea Chuen Khor, Jian-Min Yuan, Woon-Puay Koh, Xueling Sim, Alison M Dunning, Manjeet K Bolla, Antonis C Antoniou, Soo-Hwang Teo, Jingmei Li, and Mikael Hartman.
    • Genome Institute of Singapore, Human Genetics, Singapore, Singapore.
    • Bmc Med. 2022 Apr 26; 20 (1): 150150.

    BackgroundFamily 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.MethodsIn 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%.ResultsCorrelation 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.ConclusionsFamily history and genetic and non-genetic risk stratification tools have the potential to complement one another to identify women at high risk.© 2022. The Author(s).

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