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Age- and ethnic-driven molecular and clinical disparity of East Asian breast cancers
- Title
- Age- and ethnic-driven molecular and clinical disparity of East Asian breast cancers
- Authors
- Lee; Ji Yoon; Ji Won; Chung; Min Sung; Choi; Jong Gwon; Sim; Sung Hoon; Kim; Hyo Jeong; Jeong Eun; Kyoung Eun; Park; Yeon Hee; Kang; Myoung Joo; Ahn; Mi Sun; Chae; Yee Soo; Ji Hyun; Jee Hyun; Gun Min; Byun; Jae Ho; Keon Uk; Ju Won; Jung; Seung Pil; Jung Hyun; An; Jung Seok; Jang; Byunghyun; Yoon; Dayoung; Jiwon; Hong; Jisoo; Koo; Harim; Cho; Kyu Ran; Cheol Yong; Sa; Jason K.; Kyong Hwa
- Ewha Authors
- 이경은
- SCOPUS Author ID
- 이경은


- Issue Date
- 2024
- Journal Title
- BMC Medicine
- ISSN
- 1741-7015
- Citation
- BMC Medicine vol. 22, no. 1
- Keywords
- Breast cancer; Ethnic diversity; Genomic alterations; Molecular subtypes; Precision medicine
- Publisher
- BioMed Central Ltd
- Indexed
- SCIE; SCOPUS

- Document Type
- Article
- Abstract
- Background: Breast cancer (BC) is a complex disease with profound genomic aberrations. However, the underlying molecular disparity influenced by age and ethnicity remains elusive. Methods: In this study, we aimed to investigate the molecular properties of 843 primary and metastatic BC patients enrolled in the K-MASTER program. By categorizing patients into two distinct age subgroups, we explored their unique molecular properties. Additionally, we leveraged large-scale genomic data from the TCGA and MSK-IMPACT studies to examine the ethnic-driven molecular and clinical disparities. Results: We observed a high prevalence of PI3KCA mutations in K-MASTER HER2 + tumors, particularly in older patients. Moreover, we identified increased mutation rates in DNA damage response molecules, including ARID1A, MSH6, and MLH1. The K-MASTER patients were mainly comprised of triple-negative breast cancer (TNBC) and HER2-positive tumors, while the TCGA and MSK-IMPACT cohorts exhibited a predominance of hormone receptor-positive (HR +) subtype tumors. Importantly, GATA3 mutations were less frequently observed in East Asian patients, which correlated with poor clinical outcomes. In addition to characterizing the molecular disparities, we developed a gradient-boosting multivariable model to identify a new molecular signature that could predict the therapeutic response to platinum-based chemotherapy. Conclusions: Our findings collectively provide unprecedented insights into the significance of age and ethnicity on the molecular and clinical characteristics of BC patients. © The Author(s) 2024.
- DOI
- 10.1186/s12916-024-03638-y
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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