The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here:

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Åke Borg

Åke Borg

Principal investigator

Åke Borg

Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study : experiences from re-contacting mutation carriers and relatives


  • Martin P. Nilsson
  • Monica Emmertz
  • Ulf Kristoffersson
  • Åke Borg
  • Christer Larsson
  • Martin Rehn
  • Christof Winter
  • Lao H. Saal
  • Yvonne Brandberg
  • Niklas Loman

Summary, in English

Once an incidental finding (IF) is discovered in the course of genomic research, the researchers are faced with the question of whether or not that finding should be reported back to the study participant. A large number of hypothetical studies and policy documents on this issue have been published, but there are very few empirical studies to inform the bioethics debate. Within a biobank research study of somatic mutations in breast carcinomas, ten germline BRCA1/2 mutations were incidentally detected. After thorough discussions within a group of experts, the mutation carriers (n = 7) or relatives of deceased carriers (n = 3) were re-contacted and informed about the findings. Eight out of ten accepted to receive the information and underwent confirmatory testing. One year later, semi-structured interviews were undertaken with three of the study participants. All of them felt that BRCA mutations discovered in the course of research should be reported back to the individual study participants. In this paper, we report our step-by-step experiences of the re-contacting process. We hope that our detailed reporting will be helpful for other researchers and clinicians that are faced with similar situations. The results of our study lend empirical support to opinion that IFs that meet the three baseline criteria of analytic validity, clinical significance, and actionability should be reported back to the individual study participants.


  • Tumor microenvironment
  • Division of Clinical Genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Division of Translational Cancer Research
  • Surgery
  • Translational Oncogenomics

Publishing year







Journal of Community Genetics





Document type

Journal article




  • Cancer and Oncology


  • Biobank
  • BRCA1
  • BRCA2
  • Genetic
  • Incidental findings




  • Sweden Cancerome Analysis Network - Breast (SCAN-B): a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine

Research group

  • Familial Breast Cancer
  • Surgery
  • Translational Oncogenomics


  • ISSN: 1868-310X