Comparative analysis of a founder BRCA2 double mutation versus single mutation carriers reveals no additional clinical risk
These findings suggest that the BRCA2 double mutation c.631G>A/c.7008-2A>T may have a founder effect, and the coexistence of the two variants does not appear to confer an additive cancer risk or a more severe clinical phenotype compared with carriers of a single BRCA2 pathogenic mutation.
Authors
- Maria Teresa Vietri (ORCID: https://orcid.org/0000-0001-6243-2632)
- Luana Passariello
- Chiara Della Pepa
- Gemma Caliendo
- Luisa Albanese
- Alessia Mignano
- Marialaura Zitiello
Institutions
- University of Campania "Luigi Vanvitelli" (IT)
Publication Details
- Journal
- Cancer Genetics
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1016/j.cancergen.2025.11.013
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00