BRCA2 germline mutation carrier with five malignancies: a case report
Our case study revealed that the pathogenic BRCA2 c.5946del germline variant can be associated with an unusual tumour spectrum, which may lead to a delayed diagnosis of a hereditary tumour predisposition. Thus, upfront genetic testing using large multigene panels or whole-genome sequencing in encouraged, especially in cases with a prominent family history.
Authors
- Wolfram Jochum (ORCID: https://orcid.org/0000-0001-6170-2020)
- Stefanie Fischer (ORCID: https://orcid.org/0000-0001-9609-3640)
- Silvia Azzarello‐Burri
- Christian Rothermundt (ORCID: https://orcid.org/0000-0002-2104-7794)
- Enben Su (ORCID: https://orcid.org/0000-0002-1347-2467)
- Yann Christinat (ORCID: https://orcid.org/0000-0002-4977-1362)
- Thomas McKee (ORCID: https://orcid.org/0000-0002-2147-3136)
Institutions
- University of Lucerne (CH)
- University of St.Gallen (CH)
- University Hospital of Geneva (CH)
Publication Details
- Journal
- Hereditary Cancer in Clinical Practice
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1186/s13053-024-00302-7
- Citations
- 2
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Universität Zürich