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Breast cancer is a heterogeneous disease with different tumor subtypes. Identifying risk categories will help make better treatment decisions. Hence, this study aimed to predict the survival outcomes of invasive breast cancer in Vietnam, using St Gallen 2007 classification. This study was conducted on 501 patients with breast cancer who had surgical operations, but had not received neoadjuvant chemotherapy, from 2011 to 2013. The clinicopathological characteristics were recorded. Immunohistochemistry staining was performed on ER, PR, HER2/neu, and Ki67 markers. For HER2/neu(2+), fluorescence in situ hybridization was used as the test. All patients with breast cancer were stratified according to 2007 St Gallen categories. Kaplan-Meier and log-rank models were used to analyze survival rates. There were 3.8% cases classified as low risk (LR), 72.1% as intermediate risk (IR1: 60.1% and IR2: 12.0%), and 24.1% as high risk (HR1: 11.8% and HR2: 12.3%). Patients who were LR had the best prognosis, with a 5-year overall survival (OS) rate of 100%. Intermediate-risk patients were at 92.3%. High-risk patients had the worst prognosis, with a 5-year OS proportion of 69.3% ( P < .05). For disease-free survival (DFS), risk categories were categorized as LR: 100%, IR: 90.3%, and HR: 69.3% ( P < .05). Three main risk categories of breast cancer had a distinct OS and DFS. These findings suggest that the 2007 St Gallen risk category could be used to stratify patients with breast cancer into different risk groups in Vietnam.

BackgroundHereditary cancer syndromes (HCS) are responsible for 5-10% of cancer cases. Genetic testing to identify pathogenic variants associated with cancer predisposition has not been routinely available in Vietnam. Consequently, the prevalence and genetic landscape of HCS remain unknown.Methods1165 Vietnamese individuals enrolled in genetic testing at our laboratory in 2020. We performed analysis of germline mutations in 17 high- and moderate- penetrance genes associated with HCS by next generation sequencing.ResultsA total of 41 pathogenic variants in 11 genes were detected in 3.2% individuals. The carrier frequency was 4.2% in people with family or personal history of cancer and 2.6% in those without history. The percentage of mutation carriers for hereditary colorectal cancer syndromes was 1.3% and for hereditary breast and ovarian cancer syndrome was 1.6%. BRCA1 and BRCA2 mutations were the most prevalent with the positive rate of 1.3% in the general cohort and 5.1% in breast or ovarian cancer patients. Most of BRCA1 mutations located at the BRCA C-terminus domains and the top recurrent mutation was NM_007294.3:c.5251C&gt;T (p.Arg1751Ter). One novel variant NM_000038.6(APC):c.6665C&gt;A (p.Pro2222His) was found in a breast cancer patient with a strong family history of cancer. A case study of hereditary cancer syndrome was illustrated to highlight the importance of genetic testing.ConclusionThis is the first largest analysis of carrier frequency and mutation spectrum of HCS in Vietnam. The findings demonstrate the clinical significance of multigene panel testing to identify carriers and their at-risk relatives for better cancer surveillance and management strategies.

The non-invasive approach for early cancer detection promises a screening assay accessible for everyone. However, the delivery of this promise is limited due mostly to the high sequencing cost associated with available assays. Here, we developed a multimodal assay called SPOT-MAS (Screening for the Presence Of Tumor by Methylation And Size) to simultaneously profile methylomics, fragmentomics, copy number, and end motifs in a single workflow using targeted and shallow genome-wide sequencing of cell-free DNA. We applied SPOT-MAS to 738 nonmetastatic patients with breast, colorectal, gastric, lung and liver cancer, and 1,550 healthy controls. SPOT-MAS detected the five cancer types with a sensitivity of 72.4% and specificity of 97.0%, with AUC of 0.95 (95% CI 0.93-0.96). For tumor-of-origin, a graph convolutional neural network was adopted and could achieve an accuracy of 0.7. In conclusion, our study demonstrates comparable performance to other early cancer detection assays while requiring significantly lower sequencing depth, making it economically feasible for population-wide screening.