Functional analysis of cancer-associated germline risk variants.

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Tác giả: Nathan S Abell, Laura K H Donohue, Lara E Elcavage, Ibtihal Elfaki, Omar S Garcia, Margaret G Guo, Audrey W Hong, Laura N Kellman, Paul A Khavari, Lisa A Ko, Christopher M Lopez, Robin M Meyers, Smarajit Mondal, Stephen B Montgomery, Poornima H Neela, Duy T Nguyen, Douglas F Porter, Deepti Rao, David L Reynolds, Ronald L Shanderson, Rajani Shenoy, Zurab Siprashvili, Suhas Srinivasan, Shiying Tao, Glenn G Wozniak, Xue Yang, Yang Zhao

Ngôn ngữ: eng

Ký hiệu phân loại: 553.453 Tin

Thông tin xuất bản: United States : Nature genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 184057

 Single-nucleotide variants (SNVs) in regulatory DNA are linked to inherited cancer risk. Massively parallel reporter assays of 4,041 SNVs linked to 13 neoplasms comprising >
 90% of human malignancies were performed in pertinent primary human cell types and then integrated with matching chromatin accessibility, DNA looping and expression quantitative trait loci data to nominate 380 potentially regulatory SNVs and their putative target genes. The latter highlighted specific protein networks in lifetime cancer risk, including mitochondrial translation, DNA damage repair and Rho GTPase activity. A CRISPR knockout screen demonstrated that a subset of germline putative risk genes also enables the growth of established cancers. Editing one SNV, rs10411210 , showed that its risk allele increases rhophilin RHPN2 expression and stimulus-responsive RhoA activation, indicating that individual SNVs may upregulate cancer-linked pathways. These functional data are a resource for variant prioritization efforts and further interrogation of the mechanisms underlying inherited risk for cancer.
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