Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadalo, Cora M. Aalfs, Simona Agata, Kristiina Aittomaki, Elisa Alducci, Maria Concepcion Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmana, Elena Barbieri, Claus R. Bartram, Ana Blanco, Britta BluemckeSandra Bonache, Bernardo Bonanni, Ake Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldes, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Gabriele L. Capone, Sandrine M. Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux-Moncoutier, Pietro Cavalli, Giulia Cini, Edward M. Clarke, Paola Concolino, Elisa J. Cops, Laura Cortesi, Fergus J. Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Irmgard Debatin, Jesus Del Valle, Linda Am Janssen, Encarna Gomez Garcia, KConFab Investigators

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1557-1578
Number of pages22
JournalHuman Mutation
Volume40
Issue number9
DOIs
Publication statusPublished - Sep 2019

Keywords

  • BRCA1
  • BRCA2
  • classification
  • clinical
  • multifactorial
  • quantitative
  • uncertain significance
  • variant
  • SEQUENCE VARIANTS
  • BREAST-CANCER
  • UNCERTAIN SIGNIFICANCE
  • INTEGRATED EVALUATION
  • FUNCTIONAL ASSAYS
  • SPLICING ANALYSIS
  • GUIDELINES
  • CLINGEN
  • OVARIAN
  • RISKS

Cite this

Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadalo, L., Aalfs, C. M., Agata, S., Aittomaki, K., Alducci, E., Concepcion Alonso-Cerezo, M., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmana, J., Barbieri, E., Bartram, C. R., Blanco, A., ... KConFab Investigators (2019). Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Human Mutation, 40(9), 1557-1578. https://doi.org/10.1002/humu.23818