The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Mara Colombo, Irene Lopez-Perolio, Huong D. Meeks, Laura Caleca, Michael T. Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini, Siranoush Manoukian, Raquel Behar, Encarna B. Gomez Garcia, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y. Schmidt, Liliana Varesco, Barbara Wappenschmidt, Manjeet K. BollaJoe Dennis, Kyriaki Michailidou, Qin Wang, Kristiina Aittomaki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W. Beckmann, Alicia Beeghly-Fadel, Javier Benitez, Bram Boeckx, Natalia V. Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Jenny Chang-Claude, Don M. Conroy, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Peter Devilee, Thilo Dork, Mikael Eriksson, Peter A. Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, kConFab AOCS Investigators; Study EMBRACE; Study HEBON

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)729-741
Number of pages13
JournalHuman Mutation
Volume39
Issue number5
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • BRCA2
  • digital PCR
  • multifactorial likelihood analysis
  • quantitative real-time PCR
  • spliceogenic variants
  • UNCLASSIFIED VARIANTS
  • FANCONI-ANEMIA
  • INTEGRATED EVALUATION
  • SEQUENCE VARIANTS
  • CANCER
  • GENES
  • MUTATIONS
  • BREAST
  • RISK
  • RNA

Cite this

Colombo, M., Lopez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, M. T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E. B. G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A. Y., Varesco, L., Wappenschmidt, B., ... kConFab AOCS Investigators; Study EMBRACE; Study HEBON (2018). The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Human Mutation, 39(5), 729-741. https://doi.org/10.1002/humu.23411