1.BRCA1 and BRCA2 pathogenic mutations in 74 patients with early-onset breast cancer
Liuchun YANG ; Xiaojing LIU ; Yanwen JIN ; Shujuan JIN ; Xiaowei HAN ; Hanmin PANG ; Jianpeng LI ; Di MENG ; Si ZUO ; Yandong GONG ; Cheng CAO ; Yan HUANG
Military Medical Sciences 2017;41(5):398-401
Objective To investigate the pathogenic mutations of BRCA1 and BRCA2 in patients with early-onset breast cancer(≤35 years) and explore the relationships between BRCA1/2 mutations and clinical features.Methods Seventy-four patients with early-onset breast cancer were enrolled,who were treated in Hospital 307 between September 2014 and June 2016.High-throughput sequencing was used to test the 49 exon sequences and adjacent sequences of BRCA1 and BRCA2.χ2 test was used to analyze the distribution of BRCA1/2 pathogenic mutations in each group that was set up according to clinical features.Results Fifteen mutations(20.27%) were identified,including 5(6.76%) in BRCA1 and 10(13.51%) in BRCA2.Eleven new pathogenic mutations were discovered,and BRCA1:c.5470_5477delTGCCCAAT was found in one patient.The frequency of BRCA1/2 mutations in the group with a family history of breast cancer or ovarian cancer was higher than in the group without a family history (40.91% vs 11.54%) (χ2=6.534,P=0.011).Conclusion BRCA1/2 pathogenic mutation is significant for early-onset breast cancer,especially for those with a family history of breast or ovarian cancer.The new mutations may be specific to Chinese people.BRCA1:c.5470_5477delTGCCCAAT may be the ancestor mutation among the Chinese.
2.Circular RNAs Involved in The Development of Nasopharyngeal Carcinoma
Si-Cheng ZUO ; Dan WANG ; Yong-Zhen MO ; Yu-Hang LIU ; Jiao-Di CAI ; Can GUO ; Fang XIONG ; Guo-Qun CHEN
Progress in Biochemistry and Biophysics 2024;51(4):809-821
Circular RNAs (circRNAs) are a kind of non-coding RNA (ncRNA) with covalent closed-loop structure. They have attracted more and more attention because of their high stability, evolutionary conservatism, and tissue expression specificity. It has shown that circRNAs are involved in the development of a variety of diseases including malignant tumors recently. Nasopharyngeal carcinoma (NPC) is a malignant tumor that occurs in the nasopharynx and has a unique ethnic and geographical distribution in South China and Southeast Asia. Epstein-Barr virus (EBV) infection is closely related to the development of NPC. Radiotherapy and chemotherapy are the mainstays of treatment for NPC. But tumor recurrence or distant metastasis is the leading cause of death in patients with NPC. Several studies have shown that circRNAs, as gene expression regulators, play an important role in NPC and affect the progression of NPC. This review mainly summarized the research status of abnormally expressed circRNAs in NPC and EBV-encoded circRNAs. We also discussed the possibility of circRNAs as a therapeutic target, diagnostic and prognostic marker for NPC.
3.Prostate volume growth rate changes over time: Results from men 18 to 92 years old in a longitudinal community-based study.
Si-Hui LI ; Qun-Fang YANG ; Pei-Yuan ZUO ; Yu-Wei LIU ; Yu-Hua LIAO ; Cheng-Yun LIU
Journal of Huazhong University of Science and Technology (Medical Sciences) 2016;36(6):796-800
Previous investigations have shown that changes in total prostate volume (TPV) are highly variable among aging men, and a considerable proportion of aging men have a stable or decreasing prostate size. Although there is an abundance of literature describing prostatic enlargement in association with benign prostatic hyperplasia, less is known about the appropriate age cut-off points for TPV growth rate. In this community-based cohort study, TPV was examined once a year in men who had consecutive health checkup, during a follow-up of 4 years. A total of 5058 men (age 18-92 years old) were included. We applied multiple regression analyses to estimate the correlation between TPV growth rate and age. Overall, 3232 (63.9%) men had prostate growth, and 1826 (36.1%) had a stable or decreased TPV during the study period. The TPV growth rate was correlated negatively with baseline TPV (r=-0.32, P<0.001). Among 2620 men with baseline TPV <15 cm, the TPV growth rate increased with age (β=0.98, 95% CI: 0.77%-1.18%) only up to 53 years old. Among 2188 men with baseline TPV of 15-33.6 cm, the TPV growth rate increased with age (β=0.84, 95% CI, 0.66%-1.01%) only up to 61 years old after adjusting for factors of hypertension, obesity, baseline TPV, diabetes mellitus and dyslipidemia. In this longitudinal study, the TPV growth rate increased negatively with baseline TPV, only extending to a certain age and not beyond. Further research is needed to identify the mechanism underlying such differences in prostate growth.
Adolescent
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Adult
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Aged
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Aged, 80 and over
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China
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Humans
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Hypertension
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epidemiology
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Male
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Middle Aged
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Obesity
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epidemiology
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Organ Size
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Prostate
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growth & development
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pathology
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Prostatic Hyperplasia
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epidemiology
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Residence Characteristics
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statistics & numerical data