Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I. Olopade, Angela R. Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N. Weitzel, T. L. Chan, Fergus J. Fergus, David E. Goldgar, Torben A. Kruse, Edenir Inez Edenir, Sue Kyung Park, Diana Torres, Elizabeth J. van RensburgLesley McGuffog, Michael T. Parsons, Goska Leslie, Cora M. Aalfs, Julio Abugattas, Julian Adlard, Simona Agata, Kristiina Aittomaki, Lesley Andrews, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Banu K. Arun, Ella Asseryanis, Leo Auerbach, Jacopo Azzollini, Judith Balmana, Monica Barile, Rosa B. Barkardottir, Daniel Barrowdale, Javier Benitez, Andreas Berger, Raanan Berger, Amie M. Blanco, Kathleen R. Blazer, Marinus J. Blok, Valerie Bonadona, Bernardo Bonanni, Angela R. Bradbury, Carole Brewer, EMBRACE; GEMO Study Collaborators; HEBON; KConFab Investigators

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)593-620
Number of pages28
JournalHuman Mutation
Volume39
Issue number5
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • BRCA1
  • BRCA2
  • breast cancer
  • ethnicity
  • geography
  • mutation
  • ovarian cancer
  • BREAST-CANCER PATIENTS
  • RISK HISPANIC FAMILIES
  • OVARIAN-CANCER
  • GERMLINE MUTATIONS
  • FOUNDER MUTATIONS
  • HAPLOTYPE ANALYSIS
  • HEREDITARY BREAST
  • PHENOTYPE ANALYSIS
  • 185DELAG MUTATION
  • PROSTATE-CANCER

Cite this

Rebbeck, T. R., Friebel, T. M., Friedman, E., Hamann, U., Huo, D., Kwong, A., Olah, E., Olopade, O. I., Solano, A. R., Teo, S-H., Thomassen, M., Weitzel, J. N., Chan, T. L., Fergus, F. J., Goldgar, D. E., Kruse, T. A., Edenir, E. I., Park, S. K., Torres, D., ... EMBRACE; GEMO Study Collaborators; HEBON; KConFab Investigators (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation, 39(5), 593-620. https://doi.org/10.1002/humu.23406