Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

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 identifi...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411123/
https://www.ncbi.nlm.nih.gov/pubmed/36008414
http://dx.doi.org/10.1038/s41525-022-00323-y
Descripción
Sumario: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.

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