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| 1 | Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma显示文摘Objective:To reveal the distribution signature of cancer susceptibility genes in patients with gastric adenocarcinoma,offering a diagnostic and prognostic surrogate for disease risk management and therapeutic decisions.Methods:A total of 282 patients with gastric adenocarcinoma(182 males and 100 females)were enrolled in this study,with peripheral blood genomic DNA extracted.Mutations of 69 canonical cancer susceptibility genes or presumably tumor-related genes were analyzed by targeted capture-based high-throughput sequencing.Candidate mutations were particularly selected for discussion on tumor pathogenesis according to the American College of Medical Genetics and Genomics(ACMG)guidelines.Results:In this study,7.1%(20/282)of patients with gastric adenocarcinoma were found to harbor mutations of canonical or presumable cancer susceptibility genes.The detection rate in male patients(3.8%,7/182)was significantly lower than that in female patients(13%,13/100)(P=0.004).The most recurrent mutations were in AT mutated(ATM)(1.1%,3/282),followed by BRCA1,BRIP1 and RAD51D,all showed a detection rate of 0.7%(2/282).Mutations in three genes associated with hereditary gastric cancer syndromes were detected,namely,PMS2 and EP CAM associated with Lynch syndrome and CDH1 associated with hereditary di ffuse gastric cancer.The detection frequencies were all 0.4%(1/282).Notwithstanding no significant difference observed,the age of patients with pathogenic mutations or likely pathogenic mutations is slightly younger than that of non-carriers(median age:58.5 vs.60.5 years old),while the age of patients with ATM mutations was the youngest overall(median age:49.3 years old).Conclusions:Our study shed more light on the distribution signature and pathogenesis of mutations in gastric cancer susceptibility genes,and found the detection rate of pathogenic and likely pathogenic mutations in male patients was significandy lower than that in female patients.Some known and unidentified mutations were found in gastric cancer,which allowed us to gain more insight into the hereditary gastric cancer syndromes from the molecular perspective. | Ke Ji Sheng Ao Liu He Li jiao Zhang Li Feng Guoqing Lyu | 2020 | Chinese Journal of Cancer Research2020，32，4： | 0 |
| 2 | 单孔与多孔腹腔镜胃癌根治术后早期患者焦虑情绪、生活质量的对比研究显示文摘目的:比较单孔腹腔镜与常规多孔腹腔镜胃癌D2根治术后早期(术后4~7 d)患者的焦虑情绪与生活质量。方法:使用前瞻性队列研究方法,选取2020年12月至2021年5月收治的65例胃癌患者,根据术式分为两组,单孔组35例,多孔组30例。采用宗氏焦虑自评量表与胃癌患者生活质量量表于术后早期对两组患者进行评估。结果:两组患者性别、年龄差异无统计学意义;单孔组术后早期焦虑情绪低于多孔组,差异有统计学意义(P<0.001);单孔组术后早期生活质量总分、术后生理状况、社会与家庭状况、情感状况、功能状况、胃癌附加关注问题的评分均高于多孔组,差异有统计学意义(P<0.001)。结论:相较常规多孔腹腔镜手术,单孔腹腔镜手术后患者焦虑情绪更低,生活质量更高。 | 邢丽丽 于恩彦 俞晓军 王永向 | 2023 | 腹腔镜外科杂志2023，28，1： | 0 |
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