Research on Classification of Primary Liver Cancer Syndrome Based on Data Mining Technology

This study is based on the analysis of the status quo of the research on liver cancer syndromes, starting with the clinical objective and true four-diagnosis information of TCM inpatients with primary liver cancer, using computer data mining technology to analyze and summarize the syndrome rules from the bottom to the top. Let the data itself show the essence of liver cancer syndrome. First, with the help of hierarchical cluster analysis, we can understand the general characteristics through the rough preliminary classification of the four-diagnosis information of liver cancer patients. Then, with the help of the emerging and mature hidden structure model analysis in recent years, through data modeling, the classification of common syndromes of liver cancer and the corresponding relationship with the four-diagnosis information are comprehensively analyzed. Finally, considering the inherent shortcomings of implicit structure and hierarchical clustering based on the assumption that there is a unique one-to-one correspondence between the four diagnostic information factors and the class (or hidden class) when classifying, we plan to use factor analysis and joint cluster analysis, as supplementary means to further explore the classification of liver cancer syndromes and the corresponding relationship with the four-diagnosis information.

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort

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>T (p.Arg1751Ter). One novel variant NM_000038.6(APC):c.6665C>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 use of heuristics in genetic testing decision-making: A qualitative interview study

Background Decision-making concerning predictive genetic testing for hereditary cancer syndromes is inherently complex. This study aims to investigate what kind of complexities adults undergoing genetic counseling in Switzerland experience, how they deal with them, and what heuristics they use during the decision-making process. Methods Semi-structured qualitative interviews with eighteen Swiss adults seeking genetic counseling for hereditary cancer syndrome genetic testing and two counseling physicians were conducted and analyzed using a grounded theory approach. Results Counselees stated that once they were aware of their eligibility for genetic testing they perceived an inevitable necessity to make a decision in a context of uncertainties. Some counselees perceived this decision as simple, others as very complex. High emotional involvement increased perceived complexity. We observed six heuristics that counselees used to facilitate their decision: Anticipating the test result; Focusing on consequences; Dealing with information; Interpreting disease risk; Using external guidance; and (Re-)Considering the general uncertainty of life. Limitations Our findings are limited to the context of predictive genetic testing for hereditary cancer syndromes. This qualitative study does not allow extrapolation of the relative frequency of which heuristics occur. Conclusions The use of heuristics is an inherent part of decision-making, particularly in the complex context of genetic testing for inherited cancer predisposition. However, some heuristics increase the risk of misinterpretation or exaggerated external influences. This may negatively impact informed decision-making. Thus, this study illustrates the importance of genetic counselors and medical professionals being aware of these heuristics and the individual manner in which they might be applied in the context of genetic testing decision-making. Findings may offer practical support to achieve this, as they inductively focus on the counselees’ perspective.