Jiangrong Luo

Breast cancer susceptibility gene 2 (BRCA2) is the main gene associated with hereditary breast cancers. However, a mutation in BRCA2 has also been found in other tumors, such as ovarian, pancreatic, thyroid, gastric, laryngeal, and prostate cancers. In this review, we discuss the biological functions of BRCA2 and the role of BRCA2 mutations in tumor progression and therapy.

BACKGROUND: Human papillomavirus (HPV) screening and vaccination exert efficacy in controlling the progression of cervical cancer. Thus, examinations into HPV prevalence, age-stratified specificity, genotype distribution, and their correlation with pathological outcomes can furnish robust evidence for customizing high-quality population screening and management. METHODS: A cohort of 17,923 women attending clinics in the Jintang area, Sichuan, from January 2019 through August 2023 were enrolled in the study. Genotyping of HPV was conducted using real-time polymerase chain reaction (RT-PCR). The epidemiology and the relationship between HPV infection and histologic/cytologic abnormalities were subjected to analysis. RESULTS: HPV infection was identified in 4387 women. The outpatient group exhibited a significantly higher HPV infection rate compared to the healthy examination group (26.5% vs. 17.5%, p < 0.05). The distribution of infection rates across different age groups exhibited a U-shaped pattern, with the highest infection rate in the group ≤20 years of age, succeeded by those >60 years of age. The 31-40 age group demonstrated the lowest prevalence of infection, but upon infection, its prevalence of the precancerous lesion CIN2-3 reached a maximum of 29.0%, constituting a novel finding. The most prevalent genotype was HPV52, followed by HPV16, 58, 53, 68, and 18. In the cytologic and histologic abnormalities group, the most common types were HPV52, 16, and 58. HPV16 predominantly appeared in high-grade intraepithelial neoplasia and carcinoma in situ, constituting over 60% of cases. While HPV type 52 was not individually detected in cervical cancer cases. And some other non-vaccine-covered HPV subtypes also showed high prevalence in Sichuan. The single infection rates of NH9-HPV (high-risk HPV subtypes covered by the non-nine-valent vaccine) in CIN2-3 and cervical cancer patients were 6.5% and 2.6%, respectively. Among them, HPV51, HPV53, HPV59, and HPV35 exhibited a significant preponderance, which even higher than HPV45 and HPV31 covered by the nine-valent vaccine types. And in NL9-HPV (low-risk HPV subtypes covered by the non-nine-valent vaccine), HPV42 accounted for the highest percentage in CIN2-3. A similar decreasing trend was observed in annual infection rates in the healthy examination population and in the 31-40 and 51-60 age groups, while the ≤20 age group showed an increase. Regarding type-specificity, HPV16 and HPV58 exhibited the most rapid declines. CONCLUSION: This study furnishes the latest insights into the characteristics of HPV infection rate, age distribution, and genotype prevalence in Sichuan.

BACKGROUND: The 5-year survival rate of multiple myeloma (MM) in China is less than 40%, with considerable individual heterogeneity. Gene mutations are important predictive biomarkers that influence MM treatment decision. The aim of our study was to uncover the clinical significance of mutated genes in MM in the Chinese population. METHODS: Targeted exon panel sequencing was performed of 400 genes to detect the gene mutation status in plasma cells from 50 patients with MM. DAVID was used to explore the functions and pathways of mutated genes. Detection of mutant gene expression, prognosis and immune cell infiltration with GSE6477. GEO2R was utilized to identify differentially expressed genes (DEGs). Kaplan-Meier and CIBERSORT were applied to compare survival distributions and evaluate the gene expression associated with immune cell infiltration, respectively. RESULTS: Mutations of 337 genes were identified in MM. The mutation types included SNP, INS, and DEL, but the dominant mutation type was SNP. Function and pathway analysis of mutant genes were performed to elucidate DNA modifications. We identified a total number of 660 downregulated and 587 upregulated genes from the GSE6477 dataset. Thirty-three common genes were present in both the mutant genes and DEGs. The functions and pathways of the mutated genes were enriched in myeloid cell differentiation, regulation of hemopoiesis, etc. Moreover, we found that the low expression of BCL6, BIRC3, HLA-DQA1, and VCAN was correlated with poor prognosis in MM. CONCLUSIONS: The mutations and low expression of BCL6, BIRC3, HLA-DQA1, and VCAN were correlated with poor prognosis and immune cell infiltration in MM. This study is the first to reveal the spectrum of mutations in the Chinese population by the use of an NGS panel.

Background: To optimize the critical value of test items using FOCUS-PDCA (find, organize, clarify, understand, select, plan, do, check and act), and to set the personalized critical value of the test for different departments. Methods: We searched for literature reporting on the critical value and FOCUS-PDCA published over recent 5 years in order to understand the significance and status quo of critical value and FOCUS-PDCA. We also collected and analyzed the critical value data of hospital tests performed in Sichuan province hospitals in 2019, which were later compared to data from 2020 to determine the FOCUSPDCA cycle. Results: The proportion of critical values in the whole hospital decreased from 3.5% before optimization to 2.5% to 3% after optimization. The critical values of ICU, hematology, nephrology, urology, and neonatal departments after optimization significantly decreased compared with those before optimization, while the critical values of cardiac surgery, emergency ICU, cardiology, and neurosurgery ICU showed no significant difference before and after optimization. Contrary, the critical values of the infection department after optimization significantly increased before optimization. Conclusions: FOCUS-PDCA can effectively optimize the critical value of test items, which is beneficial for rational utilization of medical resources.

Calibration is the basis of traceability of clinical biochemistry results. Different calibration cycle will bring different difficulties and economic costs to clinical laboratory. By extending the Homocysteine calibration cycle, the 72 hours given by the manufacturer were extended to 7 days. The new calibration cycle can significantly reduce the cost of the laboratory and improve the work efficiency.