npj Genomic Medicine (Aug 2022)

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

  • Carolyn Horton,
  • Ashley Cass,
  • Blair R. Conner,
  • Lily Hoang,
  • Heather Zimmermann,
  • Nelly Abualkheir,
  • David Burks,
  • Dajun Qian,
  • Bhuvan Molparia,
  • Huy Vuong,
  • Holly LaDuca,
  • Jessica Grzybowski,
  • Kate Durda,
  • Robert Pilarski,
  • Jessica Profato,
  • Katherine Clayback,
  • Martin Mahoney,
  • Courtney Schroeder,
  • Wilfredo Torres-Martinez,
  • Aaron Elliott,
  • Elizabeth C. Chao,
  • Rachid Karam

DOI
https://doi.org/10.1038/s41525-022-00323-y
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 6

Abstract

Read online

Abstract 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.