1.The predictive value and therapeutic significance of PALB2 mutation in ovarian cancer
Tianxia CUI ; Hong ZHAO ; Xiaoyan WANG
Cancer Research and Clinic 2025;37(5):393-396
Ovarian cancer has the highest mortality in the gynecological malignant tumors with occult onset, and most patients are in the advanced stage at the time of confirmed diagnosis. About 20% of ovarian cancer is related to genetic factors and the most reported is BRCA1/2 gene mutation. Some studies have shown that homologous recombination repair gene mutations such as PALB2 could increase the risk of ovarian cancer. As a tumor suppressor, PALB2 plays a key role in homologous recombination repair caused by DNA double-strand break. This paper reviews the relationship between PALB2 mutation and ovarian cancer susceptibility and its potential application in the precision treatment of ovarian cancer from the perspective of structure and biological function, aiming to provide a new molecular target for the clinical treatment of the disease.
2.The predictive value and therapeutic significance of PALB2 mutation in ovarian cancer
Tianxia CUI ; Hong ZHAO ; Xiaoyan WANG
Cancer Research and Clinic 2025;37(5):393-396
Ovarian cancer has the highest mortality in the gynecological malignant tumors with occult onset, and most patients are in the advanced stage at the time of confirmed diagnosis. About 20% of ovarian cancer is related to genetic factors and the most reported is BRCA1/2 gene mutation. Some studies have shown that homologous recombination repair gene mutations such as PALB2 could increase the risk of ovarian cancer. As a tumor suppressor, PALB2 plays a key role in homologous recombination repair caused by DNA double-strand break. This paper reviews the relationship between PALB2 mutation and ovarian cancer susceptibility and its potential application in the precision treatment of ovarian cancer from the perspective of structure and biological function, aiming to provide a new molecular target for the clinical treatment of the disease.
3.Association between DNA methylation in the CpG island of dopamine D2 receptor gene promoter region and persistent postural-perceptual dizziness
Zhihui YAN ; Liping CUI ; Tianxia YU ; Min KONG ; Quntao YU ; Hui LIANG ; Chunfu CHEN
Chinese Journal of Neuromedicine 2020;19(7):715-718
Objective:To analyze the relation between DNA methylation in the CpG island of dopamine D2 receptor ( DRD2) gene promoter region and persistent postural-perceptual dizziness (PPPD), and explore the molecular mechanism of PPPD. Methods:The disease group consisted of 43 patients diagnosed as having PPPD in our hospital from January 2017 to June 2017, and blood samples were taken at admission. The control group included 45 with acute vestibular peripheral vertigo whose dizziness symptoms did not recrudesce after follow-up for more than 3 months and PPPD diagnosis was excluded in our hospital at the same period; these patients did not take selective serotonin reuptake inhibitors (SSRIs) or serotonin norepinephrine reuptake inhibitors (SNRIs); blood samples in the patients were collected during follow-up. DNA methylation in the CpG island of DRD2 promoter region was detected by disulfite sequencing and the differences between the two groups were compared. Results:The positive rate of DNA methylation in the CpG island of DRD2 promoter region in the disease group was 58.1%, which was significantly higher than that in the control group (15.6%, P<0.05); and the methylation rate of CpG island loci in the disease group (0.15±0.18) was significantly higher than that in the control group (0.04±0.10, P<0.05). Conclusion:The DNA methylation in the CpG island of DRD2 promoter region is associated with onset of PPPD.
4.Association of dopamine receptor D2 TaqIA gene polymorphism with persistent postural-perceptual dizziness
Zhihui YAN ; Liping CUI ; Tianxia YU ; Jianhua TANG ; Min KONG ; Quntao YU ; Hui LIANG ; Chunfu CHEN
Chinese Journal of Neuromedicine 2018;17(10):1033-1036
Objective To analyze the association ofdopamine receptor D2 (DRD2) TaqIA gene polymorphism with persistent postural-perceptual dizziness (PPPD) and explore the molecular mechanism of this disease.Methods The study group consisted of 43 patients diagnosed as having PPPD was chosen in our hospital from January 2017 to June 2017;45 gender-and age-matched control subjects were selected randomly from acute vertigo patients who were fully recovered within 3 months without selective serotonin reuptake inhibitors (SSRIs) or serotonin norepinephrine reuptake inhibitors (SNRIs) medication and were normal at 6 months of follow up.Personality characteristics of the two groups were analyzed by adult Essen personality inventory.Frequencies of DRD2 TaqIA gene polymorphism were detected with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).Results Percentage of neurotic individuals in study group (67.4%) was significant higher than that of control subjects (37.8%,P<0.05).Genotype distribution ofA1/A1,A1/A2,and A2/A2 showed significant difference between the two groups (P<0.05).In the study group,A1 and A2 allele frequencies in the DRD2 TaqIA gene were 65.1% and 34.9% respectively,which had significantly difference as compared with those of control subjects (46.7% and 53.3%,P<0.05).Conclusion A 1 allele in DRD2 TaqIA gene may be the susceptibility gene for PPPD.

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