View : 99 Download: 0

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
LeeJi YoonJi WonChungMin SungChoiJong GwonSimSung HoonKimHyo JeongJeong EunKyoung EunParkYeon HeeKangMyoung JooAhnMi SunChaeYee SooJi HyunJee HyunGun MinByunJae HoKeon UkJu WonJungSeung PilJung HyunAnJung SeokJangByunghyunYoonDayoungJiwonHongJisooKooHarimChoKyu RanCheol YongSaJason K.Kyong Hwa
Ewha Authors
이경은
SCOPUS Author ID
이경은scopusscopus
Issue Date
2024
Journal Title
BMC Medicine
ISSN
1741-7015JCR Link
Citation
BMC Medicine vol. 22, no. 1
Keywords
Breast cancerEthnic diversityGenomic alterationsMolecular subtypesPrecision medicine
Publisher
BioMed Central Ltd
Indexed
SCIE; SCOPUS WOS 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
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

BROWSE