对43000名遗传性癌症检测患者队列的突变和剪接图谱分析。
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
作者信息
Horton Carolyn, Cass Ashley, Conner Blair R, Hoang Lily, Zimmermann Heather, Abualkheir Nelly, Burks David, Qian Dajun, Molparia Bhuvan, Vuong Huy, LaDuca Holly, Grzybowski Jessica, Durda Kate, Pilarski Robert, Profato Jessica, Clayback Katherine, Mahoney Martin, Schroeder Courtney, Torres-Martinez Wilfredo, Elliott Aaron, Chao Elizabeth C, Karam Rachid
机构信息
Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
Roswell Park Comprehensive Cancer Center, 665 Elm St, Buffalo, NY, 14203, USA.
出版信息
NPJ Genom Med. 2022 Aug 25;7(1):49. doi: 10.1038/s41525-022-00323-y.
DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a clinical cohort of 43,524 individuals undergoing genetic testing for hereditary cancer predisposition.
DNA种系基因检测可以识别具有癌症易感性的个体。然而，仅DNA测序在检测和分类mRNA剪接变体方面存在局限性，尤其是那些位于远离编码序列的变体。在这里，我们通过将DNA和RNA测序相结合来解决剪接变体识别和解释的局限性，并描述了43524名接受遗传性癌症易感性基因检测的临床队列中的突变和剪接情况。
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