Samsung Medical Center establishes the world's largest breast 피망 바카라 cohort

[by Yu, Suin] Samsung Medical Center announced on December 4 that it has completed the world's largest breast cancer cohort analyzed through whole-genome sequencing (WGS).

A research team led by Professors Park Yeon-hee (Hematology-Oncology), Yu Jong-han (Breast Surgery), and Lee Jeong-min (Radiology) at the Samsung Medical Center 피망 바카라 Center, in collaboration with Drs. Ju Young-seok and Kim Ryul of the bioinformatics company Inocras, reported the completion of the ‘CUBRICS (Clinical Utility of Breast 피망 바카라 Research by Inocras, CMC, and SMC)’ cohort in the latest issue of Nature (IF = 48.5).

The CUBRICS cohort integrates whole-genome sequencing (WGS) data from 1,364 Korean breast 피망 바카라 patients enrolled at Samsung Medical Center and Seoul St. Mary's Hospital over a ten-year period from 2012 to 2023 with corresponding clinical information, creating the most comprehensive dataset of its kind to date.

This achievement reflects the combined expertise, research capabilities, and accumulated resources of the Samsung Medical Center research team. Dr. Ju Young-seok explained, "This demonstrates what becomes possible when a large-scale clinical cohort is integrated with WGS and world-class bioinformatics. Through '피망 바카라Vision,' we were able to identify genomic insights that cannot be detected with targeted panels, and we expect this to accelerate the adoption of WGS in routine 피망 바카라 care."

Recent research trends increasingly suggest that data quality directly influences the quality of scientific research outcomes. Observers note that the collaborative model between Samsung Medical Center and Inocras provides a valuable framework for effectively using data as a critical resource for future industry advancement. Specifically, in this study, analyses included mutation signatures that help identify the underlying causes of 피망 바카라; homologous recombination deficiency (HRD), which predicts responsiveness to specific anti피망 바카라 therapies; tumor mutational burden (TMB), an indicator of potential immunotherapy benefit; and tumor heterogeneity score (MATH), which measures the complexity and adaptability of malignancies.

It is anticipated that this dataset will serve as a crucial foundation for elucidating how genetic mutations influence the development of breast 피망 바카라. Moreover, the use of Korean patient data in the CUBRICS cohort is regarded as highly valuable, as it provides an accurate representation of the clinical and genomic characteristics unique to Korean breast 피망 바카라 patients.

"In the breast 피망 바카라 research landscape that remains predominantly Western-centric, Asian patients, including Koreans, are frequently excluded from the development of new treatments and therapeutics. By establishing a cohort that accurately reflects the unique characteristics of the Korean population and supports more precise and sophisticated genomic-based research, we aim to expand future opportunities for Asian patients," the research team commented.

Using the CUBRICS dataset, the research team identified approximately 10.93 million acquired mutations. The study also pinpointed 41 key genes implicated in breast 피망 바카라 development, four of which (BCL11B, RREB1, RAF1, and SPECC1) were reported for the first time in this analysis.

"These newly identified genes may serve as new biomarkers for breast 피망 바카라 diagnosis and could also provide a foundation for developing new anti피망 바카라 therapies that target their functions," the research team predicted.

Another major finding from the CUBRICS cohort was the quantification of the continual heterogeneity present in 피망 바카라 cells. When TP53, a critical 피망 바카라-associated gene, is mutated, DNA damage cannot be properly repaired, causing 피망 바카라 cells with varying degrees of genomic alteration to proliferate in a single tumor. This intratumoral diversity creates highly individualized disease profiles and further complicates treatment intervention.

The research team analyzed this phenomenon and introduced a mathematical model (MATH) that captures tumor heterogeneity as a prognosis marker. According to the analysis, patients whose MATH scores exceeded the median value (40 points) demonstrated a 1.66-fold higher risk of mortality compared to those with lower scores. Specifically, patients with human epidermal growth factor receptor 2 (HER2)-positive breast 피망 바카라 exhibited a 2.80-fold lower progression-free survival rate following anti-HER2 therapy. These findings were further corroborated using an independent breast 피망 바카라 cohort (METABRIC), establishing a basis for more refined treatment strategies for patients with identical breast 피망 바카라 subtypes.

Another characteristic identified through the cohort was the notably high prevalence of inherited APOBEC3A/3B mutations among Korean breast 피망 바카라 patients (31.8%), a rate markedly higher than the 8.5% observed in European patients. APOBEC3A/3B mutations accelerate mutations in other genes, thereby contributing to 피망 바카라 progression. This observation underscores that Asian breast 피망 바카라 patients may begin from a fundamentally different genetic baseline than their Western counterparts.

"By revealing genetic traits specific to the Korean population, this study is anticipated to offer a key foundation for deciphering the complex mechanisms underlying breast 피망 바카라 development in Koreans," the research team remarked.

The research team further demonstrated through this study that key mutations in breast 피망 바카라 begin to accumulate long before the disease is clinically diagnosed. The findings suggest that breast 피망 바카라 does not develop suddenly at a single point in time, but rather that its biological characteristics are, to a significant extent, predetermined at the moment 피망 바카라 cells first emerge.

In reality, 피망 바카라 originates with the emergence of long-segmental copy number amplifications at an early cellular stage, which may or may not progress to malignancy. Over time, additional factors that drive breast 피망 바카라 development accumulate, ultimately leading to the onset of the disease.

"This finding may, to some extent, clarify why hormone receptor-positive (HR+) breast 피망 바카라, despite being relatively manageable, tends to relapse over time and eventually becomes difficult to treat. This underscores that breast 피망 바카라 is a disease requiring a long-term and contextually comprehensive understanding in order to achieve effective treatment," the research team emphasized.

The research team further underscored that one of the major accomplishments of this cohort was its ability to overcome the inherent limitations of widely used next-generation sequencing (NGS) methods. NGS, which relies on targeted panel testing, examines a predefined set of genes and primarily identifies point mutations, changes occurring in single DNA bases. As a result, it offers only a partial view of 피망 바카라, making it difficult to capture the broader genomic alterations or the complex genetic characteristics underlying tumor development. This limitation is similar to observing a single tree at a given moment without perceiving the larger forest, whose appearance changes continuously with the seasons.

"Breast 피망 바카라 subtypes can shift during the course of treatment, and even within the same subtype, patterns of treatment resistance differ. The CUBRICS cohort has more clearly demonstrated, through mutation signatures, that treatment resistance can indeed vary within the same subtype," the research team explained.

The research team further highlighted that the cohort revealed homologous recombination deficiency (HRD) as a critical determinant of treatment outcomes in breast 피망 바카라. They identified HRD as a major factor influencing progression-free survival, noting that women with hormone receptor-positive (HR+) metastatic breast 피망 바카라 who exhibited HRD faced a 14.7-fold higher risk of disease progression and failure to first-line treatment (hormonal therapy and CDK4/6 inhibitors).

The research team commended the study, noting, "By comprehensively and rigorously identifying mutations closely tied to therapeutic strategies such as HRD, we have established a structural framework that moves us one step closer to achieving precision medicine for breast 피망 바카라." They further described this accomplishment as "rarely seen in recent years."

CUBRICS constitutes ​​the largest Korean breast 피망 바카라 genome database with fully integrated clinical information, heightening expectations that it will position Korea as a leading contributor to breast 피망 바카라 translational research both in Asia and on the global stage. Professor Park Yeon-hee, who led the study, remarked, "Currently accepted criteria alone do not sufficiently explain the characteristics of breast 피망 바카라 or the differences in treatment outcomes among patients. We hope that this cohort, which integrates WGS and clinical data, will more clearly elucidate the mechanisms of breast 피망 바카라 and provide an opportunity to shift the paradigm of breast 피망 바카라 research and treatment."