A New Frontier for Cancer Genetics: Identification of Germline-Somatic Associations.
A New Frontier for Cancer Genetics: Identification of Germline-Somatic Associations.
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癌症遗传学的新前沿：种系-体细胞关联的鉴定。
DOI：
10.1158/0008-5472.can-23-0152
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发表时间：
2023
期刊：
影响因子：
11.2
通讯作者：
Kar SP
中科院分区：
文献类型：
--
作者：
Kar SP
对遗传或生殖系基因组的研究已经确定了与癌症风险相关的具有较大效应的罕见突变和具有更适度效应大小的常见多态性。这项研究充分阐明了癌症的病因和发展，特别是与癌症预防有关。同时，体细胞或肿瘤基因组的研究有助于确定癌症进展的关键驱动因素，为现代癌症治疗提供重要信息。虽然这些研究到目前为止主要是单独进行的，但在同一个体中绘制生殖系和体细胞基因组的综合研究有可能产生对癌症生物学的新颖和全面的见解。在这一期的《癌症研究》中，Liu及其同事报告了对12，000多名癌症患者和11种癌症类型进行综合生殖细胞-体细胞分析的结果，确定了几种关联，其中调节正常组织中附近基因表达的遗传变异与同一基因中的肿瘤突变或全基因组体细胞性状（如肿瘤突变负荷）相关。尽管还需要大量的后续工作，但这项研究对一系列新的证据做出了重要贡献，这些证据表明生殖细胞在塑造肿瘤基因组方面发挥着至关重要的作用。第1191页
Studies of the inherited or germline genome have identified rare mutations with large effects and common polymorphisms of more modest effect sizes that are associated with cancer risk. This research has substantially illuminated the etiology and development of cancer, with particular relevance to cancer prevention. In parallel, studies of the somatic or tumor genome have been instrumental in identifying the key drivers of cancer progression, significantly informing modern cancer therapy. While these studies have thus far largely been performed separately, integrative studies where the germline and somatic genomes are mapped in the same individuals have the potential to yield novel and holistic insights into cancer biology. In this issue ofCancer Research, Liu and colleagues report the results of integrative germline–somatic analyses in over 12,000 patients with cancer and 11 cancer types, identifying several associations where inherited variants that regulate the expression of a nearby gene in normal tissues are associated with tumor mutations in the same gene or with genome-wide somatic traits such as the tumor mutational burden. Although considerable follow-up work is required, the study is an important contribution to an emerging body of evidence that is demonstrating that the germline has a vital role in shaping the tumor genome.See related article by Liu et al., p. 1191
利用遗传学预测癌症免疫疗法的毒性
影响因子：
82.9
作者：
C. Robert;S. Vagner;X. Mariette
通讯作者：
X. Mariette
肿瘤突变负担是多基因的，并且与复杂的性状和疾病有遗传相关性
影响因子：
11.2
作者：
Xiwei Sun;Angli Xue;Ting Qi;Dan Chen;Dandan Shi;Yang Wu;Zhili Zheng;Jian Zeng;Jian Yang
通讯作者：
Jian Yang
影响因子：
28.2
作者：
Carter H;Marty R;Hofree M;Gross AM;Jensen J;Fisch KM;Wu X;DeBoever C;Van Nostrand EL;Song Y;Wheeler E;Kreisberg JF;Lippman SM;Yeo GW;Gutkind JS;Ideker T
通讯作者：
Ideker T