Article
Functional analysis of cancer-associated germline risk variants.
Nature genetics - 1 Mar 2025
Kellman Laura N, Neela Poornima H, Srinivasan Suhas, Siprashvili Zurab, Shanderson Ronald L, Hong Audrey W, Rao Deepti, Porter Douglas F, Reynolds David L, Meyers Robin M, Guo Margaret G, Yang Xue, Zhao Yang, Wozniak Glenn G, Donohue Laura K H, Shenoy Rajani, Ko Lisa A, Nguyen Duy T, Mondal Smarajit, Garcia Omar S, Elcavage Lara E, Elfaki Ibtihal, Abell Nathan S, Tao Shiying, Lopez Christopher M, Montgomery Stephen B, Khavari Paul A
Abstract excerpt
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...
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