Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient
Rare variants in immune-related genes, such as <i>PRF1</i> p.Ala91Val, may influence <i>BRCA1</i> penetrance. Broader exome-wide analyses comparing affected vs. unaffected <i>BRCA1/2</i> mutation carriers, or women stratified by age at cancer onset, could help identify additional genetic modifiers of cancer risk.
Authors
- Grigoriy A. Yanus (ORCID: https://orcid.org/0000-0002-9844-4536)
- Ekatherina Sh. Kuligina (ORCID: https://orcid.org/0000-0002-2396-6540)
- Jan Lubiński (ORCID: https://orcid.org/0000-0003-2931-3003)
- Aleksandr S. Martianov (ORCID: https://orcid.org/0000-0002-7690-8328)
- Anastasia V. Tumakova (ORCID: https://orcid.org/0000-0001-7506-893X)
- Евгений Наумович Имянитов (ORCID: https://orcid.org/0000-0003-4529-7891)
- A Togo (ORCID: https://orcid.org/0000-0001-9295-2735)
- Yuliy A. Gorgul
- Alexandr A. Romanko (ORCID: https://orcid.org/0000-0002-6549-8378)
- Aniruddh Kashyap (ORCID: https://orcid.org/0000-0001-7374-7912)
- Evgeny N. Suspitsin (ORCID: https://orcid.org/0000-0001-9764-2090)
- Cezary Cybulski (ORCID: https://orcid.org/0000-0002-2819-3057)
Institutions
- Institute of Oncology NN Petrov (RU)
- International Hereditary Cancer Center (PL)
- Saint Petersburg State Pediatric Medical University (RU)
Publication Details
- Journal
- Cancers
- Published
- 2025-11-25
- DOI
- https://doi.org/10.3390/cancers17233756
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00