Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

Rita D. Brandao*, Klaas Mensaert, Irene Lopez-Perolio, Demis Tserpelis, Markos Xenakis, Vanessa Lattimore, Logan C. Walker, Anders Kvist, Ana Vega, Sara Gutierrez-Enriquez, Orland Diez, Miguel de la Hoya, Amanda B. Spurdle, Tim De Meyer, Marinus J. Blok, KConFab Investigators

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)401-414
Number of pages14
JournalInternational Journal of Cancer
Volume145
Issue number2
DOIs
Publication statusPublished - 15 Jul 2019

Keywords

  • targeted RNA-seq
  • alternative splicing
  • inherited breast
  • ovarian cancer syndrome
  • lynch syndrome
  • BRCA1
  • 2
  • UNCLASSIFIED VARIANTS
  • GERMLINE MUTATIONS
  • HEREDITARY BREAST
  • OVARIAN-CANCER
  • CLASSIFICATION
  • RAD51C
  • ASSAYS
  • RISK
  • PREDICTION

Cite this

Brandao, R. D., Mensaert, K., Lopez-Perolio, I., Tserpelis, D., Xenakis, M., Lattimore, V., Walker, L. C., Kvist, A., Vega, A., Gutierrez-Enriquez, S., Diez, O., de la Hoya, M., Spurdle, A. B., De Meyer, T., Blok, M. J., & KConFab Investigators (2019). Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. International Journal of Cancer, 145(2), 401-414. https://doi.org/10.1002/ijc.32114