PALB2 is a tumor suppressor gene. Heterozygous germline pathogenic variants of PALB2 significantly increase the lifetime risk of breast cancer and moderately increase the risk of ovarian and pancreatic cancers. This study analyzed the estimated prevalence of PALB2 variants globally, focusing on East Asian and Korean populations, where limited data were previously available. We examined 125,748 exomes from the Genome Aggregation Database (gnomAD), including 9197 East Asians, and additional data from 5305 individuals in the Korean Variant Archive and 1722 in the Korean Reference Genome Database. All PALB2 variants were interpreted according to guidelines from the American College of Medical Genetics and Genomics and the Clinical Genome Resource. The global prevalence of PALB2 variants was 0.18%, with the highest prevalence in Finnish populations (0.41%) and the lowest in Ashkenazi Jewish populations (0.04%). East Asians had a prevalence of 0.09%. By combining data from Korean genome databases and gnomAD totaling 8936 individuals, the overall prevalence of PALB2 variants in the Korean population was determined to be 0.13%. This study is the first comprehensive investigation of PALB2 variant prevalence in East Asians and Koreans using gnomAD and Korean genome databases. These findings provide essential reference data for future research and highlight the importance of region-specific genetic studies that will inform genetic counseling and hereditary cancer risk management.

Germline PALB2 variants increase the risks of various cancers. However, these have not been comprehensively investigated in Korean patients with cancer. Our study aimed to evaluate the prevalence and clinical characteristics of PALB2 germline variants in Korean patients with cancer and compare these findings with existing data. We analyzed the clinicopathological and germline next-generation sequencing data of 3987 patients with cancer from the National Cancer Center in Korea. Additionally, we carried out functional analysis of the PALB2 splicing variant, c.3350+5G>A. A total of 104 patients presented PALB2 germline variants with eight pathogenic variants (PVs), 14 likely pathogenic variants (LPVs), and 82 variants of uncertain significance (VUS). PALB2 PV/LPVs were detected at an overall frequency of 0.6% (22/3987) across all patients. Among patients with PV/LPVs, 95.5% were women, and 19 and 3 carriers were diagnosed with breast and ovarian cancer, respectively. Further, we reclassified c.3350+5G>A as a PV rather than VUS, according to the American College of Medical Genetics and Genomics guidelines. Patients with PALB2 PV/LPVs had a younger age at first cancer diagnosis (44.6 ± 10.1 years versus 50.2 ± 12.0 years, P = 0.019) and were more likely to have multiple primary organ cancer diagnoses (22.7% versus 8.3%, P = 0.032) compared with those without these variants. Age at first cancer diagnosis and the presence of multiple primary organ cancers are key risk factors for suspected germline PALB2 PV. Hence, strategies are required to improve adherence to the National Comprehensive Cancer Network guidelines for cancer screening and family genetic testing among Korean patients with cancer.

Objective: Understanding how patients with cancer attribute their illness is crucial for improving public health interventions and support strategies. This scoping review explores perceived causal attributions among women with breast and gynecological cancers, focusing on quantitative studies. It further examines regional and temporal patterns and identifies gaps in public awareness. Methods: A literature search was conducted in four electronic databases: PubMed, EMBASE, CINAHL, and APA PsycINFO. Eligible studies focusing on women diagnosed with breast or gynecological cancers and their perceived causal attributions were included. Filters were applied for language (English, Korean), publication type (original article), and time‐period (1949–2025). Data were extracted, categorized, and analyzed descriptively. Results: Our search identified 3072 studies, of which 41 met the inclusion criteria. Psychological risk factors, particularly stress, were the most frequently reported top‐ranked causal attributions (50.0%), followed by biological risk factors (23.8%), while behavioral risk factors were under‐recognized. The Western population was more focused on biological risk factors, whereas non‐Western population more frequently reported psychological and environmental factors. Moreover, studies published after 2015 reported an increased emphasis on psychological risk factors , while attributions to fate or chance diminished significantly. Conclusion: The persistent over‐attribution of psychological risk factors and under‐recognition of behavioral risk factors highlight the need for targeted education and campaigns. Cultural and societal influences shape these perceptions, emphasizing the importance of evidence‐based education to improve cancer awareness and prevention strategies.

Germline pathogenic/likely pathogenic (P/LP) variants inform cancer treatment and prevention, yet real‐world detection patterns and downstream clinical management remain poorly characterized in East Asian hereditary cancer cohorts. This retrospective cohort study included 5829 patients with cancer who underwent germline testing at the National Cancer Center, Republic of Korea, between April 2006 and April 2023 using BRCA1/2 ‐only testing or multigene panel testing. We examined P/LP variant prevalence, detection patterns under the revised national reimbursement criteria, gene group‐stratified post‐test clinical management, and variant reclassification outcomes. Among 5829 patients (96.6% female; median age, 51 years), 987 (16.9%) carried P/LP variants. Detection rates differed across reimbursement criteria, with the highest rates in patients with ovarian cancer (24.2%) and those meeting multiple criteria (up to 39.3%). Among P/LP carriers, 773 (78.3%) received at least one post‐test clinical action; however, action rates differed substantially across gene groups, ranging from 84.3% among BRCA1/2 carriers to 46.0% among mismatch repair gene carriers. Of 1384 initial variants of uncertain significance, 25 (1.8%) were reclassified as P/LP, identifying 46 additional carriers. Overall variant frequencies were strongly shaped by the breast and ovarian cancer–predominant cohort composition, whereas documented post‐test clinical actions varied across gene groups. Variant reclassification identified additional P/LP carriers, supporting the need for structured recontact and follow‐up pathways.

Blood-derived extracellular vesicle (EV) biomarkers have emerged as promising liquid-biopsy analytes for monitoring treatment response and prognosis in breast cancer. This scoping review mapped the clinical evidence on blood-derived EV in breast cancer and identified key barriers to clinical translation. Following the Joanna Briggs Institute framework and PRISMA-ScR guidelines, we searched PubMed, Embase, and Web of Science for eligible studies published through November 2025. After duplicate removal, title and abstract screening, and full-text assessment, 64 clinical studies were included. Research activity increased markedly from 2020 onward, accounting for 87.5% (56/64) of included studies. The literature was concentrated in East Asia, particularly China (51.6%, 33/64). RNA-based biomarkers predominated (60.9%, 39/64), especially microRNAs (39.1%, 25/64). Prognostic outcomes were evaluated in 89.1% (57/64) of studies, treatment response in 51.6% (33/64), and both endpoints in 40.6% (26/64). Triple-negative breast cancer was the most frequently studied subtype in isolation (15.6%, 10/64). Methodological heterogeneity was substantial, and kit-based precipitation was the most common EV isolation method (57.8%, 37/64). EV biomarkers show promise for non-invasive monitoring in breast cancer, but methodological standardization, compliance with Minimal Information for Studies of Extracellular Vesicles guidelines, and large prospective validation studies remain necessary before routine clinical implementation.