The difference in contralateral breast cancer and ovarian cancer risks for BRCA1 founder variant (c.5266dup, c.4035del) carriers with primary breast cancer
Both BRCA1 founder PVs confer substantially increased risks of CBC and OC compared with the general breast cancer population. The PV c.5266dup is associated with relatively higher CBC risk and lower OC risk, whereas PV c.4035del is associated with relatively lower CBC risk but higher OC risk. Age < 40 years at PBC further increases CBC risk, but does not influence OC risk. These findings highlight the importance of PV location in refining individualized risk-reduction strategies for BRCA1 carriers.
Authors
- Signe Subatniece
- Jan Lubiński (ORCID: https://orcid.org/0000-0003-2931-3003)
- Pēteris Loža (ORCID: https://orcid.org/0000-0002-8358-7251)
- Arvīds Irmejs (ORCID: https://orcid.org/0000-0002-0538-1194)
- Zanda Daneberga (ORCID: https://orcid.org/0000-0003-0887-2973)
- Genādijs Trofimovičs (ORCID: https://orcid.org/0000-0001-6433-1499)
- Jeļena Maksimenko (ORCID: https://orcid.org/0000-0003-2462-3125)
- Jānis Gardovskis (ORCID: https://orcid.org/0000-0001-9656-6209)
- Jacek Gronwald
Institutions
- Pauls Stradiņš Clinical University Hospital (LV)
- Riga Stradiņš University (LV)
- International Hereditary Cancer Center (PL)
- Pomeranian Medical University (PL)
Publication Details
- Journal
- BMC Cancer
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1186/s12885-025-15110-y
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission