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The Clinical Relevance of Frequent Germline Genetic Variants Detected by Targeted Sequencing in Patients With Rectal Adenocarcinoma (READ)

机译：直肠腺癌患者靶向测序检测频繁种系遗传变异的临床相关性（读取）

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Background: The progression of colorectal cancer (CRC) mainly stems from the occurrence of somatic mutation. However, there is little information that can be used to comprehensively analyse the importance of germline variants in CRC patients. Patients and Methods: The candidate germline variants between tumor relapse and cured rectal adenocarcinoma (READ) were firstly filtered by whole-exome sequencing (n=4), and validated by targeted sequencing and associated with clinical outcome in READ (n=48). Results: We identified 9 pathogenic germline variants that were clinically associated with survival outcome in READ, including TIPIN, TLR1, TLR10, OR4D6, IGSF3, UBBP4, OR6J1, FAM208A and DISC1. Patients carrying these germline susceptibility variants had an increased risk of poor survival outcome compared to those without these variants. Conclusion: Not only the tumor genome, but also the germline sequence must be analysed to depict the overall genetic profile, providing potential therapeutic strategies for personalized medicine.
机译：背景：结肠直肠癌（CRC）的进展主要是源于体细胞突变的发生。然而，几乎没有信息可用于全面分析CRC患者中种系变体的重要性。患者和方法：首先通过全外壳测序（n = 4）过滤肿瘤复发和固化直肠腺癌（读取）之间的候选种系变体，并通过靶向测序验证并与读取的临床结果相关（n = 48）。结果：我们鉴定了9种致病种系变体，其临床相关，包括读取的存活结果，包括铸模，TLR1，TLR10，OR4D6，IGSF3，UBBP4，OR6J1，FAM208A和DISC1。携带这些种系敏感性变体的患者与没有这些变体的人相比，生存结果差的风险增加。结论：不仅肿瘤基因组，还必须分析种系序列，以描述整体遗传型材，为个性化医学提供潜在的治疗策略。

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