BRCA1 and BRCA2 5 ' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Leslie J. Burke, Jan Sevcik, Gaetana Gambino, Emma Tudini, Eliseos J. Mucaki, Ben C. Shirley, Phillip Whiley, Michael T. Parsons, Kim De Leeneer, Sara Gutierrez-Enriquez, Marta Santamarina, Sandrine M. Caputo, Elizabeth Santana dos Santos, Jana Soukupova, Marketa Janatova, Petra Zemankova, Klara Lhotova, Lenka Stolarova, Mariana Borecka, Alejandro Moles-FernandezSiranoush Manoukian, Bernardo Bonanni, Stacey L. Edwards, Marinus J. Blok, Thomas van Overeem Hansen, Maria Rossing, Orland Diez, Ana Vega, Kathleen B. M. Claes, David E. Goldgar, Etienne Rouleau, Paolo Radice, Paolo Peterlongo, Peter K. Rogan, Maria Caligo, Amanda B. Spurdle, Melissa A. Brown, ENIGMA Consortium

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2025-2039
Number of pages15
JournalHuman Mutation
Volume39
Issue number12
DOIs
Publication statusPublished - 1 Dec 2018

Keywords

  • breast cancer
  • BRCA1
  • BRCA2
  • promoter
  • transcription
  • variants of unknown clinical significance (VUS)
  • OVARIAN-CANCER
  • REGULATORY ELEMENTS
  • GERMLINE VARIANTS
  • GENE-EXPRESSION
  • RISK
  • SUSCEPTIBILITY
  • TRANSCRIPTION
  • ASSOCIATION
  • MUTATIONS
  • COMPLEX

Cite this

Burke, L. J., Sevcik, J., Gambino, G., Tudini, E., Mucaki, E. J., Shirley, B. C., Whiley, P., Parsons, M. T., De Leeneer, K., Gutierrez-Enriquez, S., Santamarina, M., Caputo, S. M., dos Santos, E. S., Soukupova, J., Janatova, M., Zemankova, P., Lhotova, K., Stolarova, L., Borecka, M., ... ENIGMA Consortium (2018). BRCA1 and BRCA2 5 ' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Human Mutation, 39(12), 2025-2039. https://doi.org/10.1002/humu.23652