Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants
Abstract Pathogenic variants in BRCA1 and BRCA2 are associated with an increased risk of developing several types of cancer, including breast cancer. However, the risk varies by other environmental and genetic factors present in carriers of mutation. To understand the value of these factors more cle...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-04-01
|
| Series: | Hereditary Cancer in Clinical Practice |
| Online Access: | https://doi.org/10.1186/s13053-025-00313-y |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850206249024487424 |
|---|---|
| author | Roksana Dwornik Katarzyna Białkowska |
| author_facet | Roksana Dwornik Katarzyna Białkowska |
| author_sort | Roksana Dwornik |
| collection | DOAJ |
| description | Abstract Pathogenic variants in BRCA1 and BRCA2 are associated with an increased risk of developing several types of cancer, including breast cancer. However, the risk varies by other environmental and genetic factors present in carriers of mutation. To understand the value of these factors more clearly, a number of common genetic susceptibility variants have been studied through genome-wide association studies as potential genetic risk modifiers for BRCA1 and BRCA2 pathogenic variants carriers. Several studies have identified specific polymorphisms that may influence the risk of breast cancer development, either by increasing or reducing susceptibility. These variants are implicated in biological pathways such as DNA damage repair, hormonal regulation or cell proliferation. The identification and understanding of key genetic modifiers may provide valuable insights into development of personalized prevention, targeted therapies and screening strategies for high-risk individuals. This review presents the overview of known genetic risk modifiers for carriers of BRCA1 and BRCA2 pathogenic variants, their potential impact on risk, and their functional roles. Furthermore, it highlights the need for further research directions, including understanding the biological role of genetic modifiers in cancer development and the refinement of risk assessment models. |
| format | Article |
| id | doaj-art-e035ee206dce40ab993b82f1a83f822d |
| institution | OA Journals |
| issn | 1897-4287 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj-art-e035ee206dce40ab993b82f1a83f822d2025-08-20T02:10:53ZengBMCHereditary Cancer in Clinical Practice1897-42872025-04-0123111110.1186/s13053-025-00313-yInsights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variantsRoksana Dwornik0Katarzyna Białkowska1Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityAbstract Pathogenic variants in BRCA1 and BRCA2 are associated with an increased risk of developing several types of cancer, including breast cancer. However, the risk varies by other environmental and genetic factors present in carriers of mutation. To understand the value of these factors more clearly, a number of common genetic susceptibility variants have been studied through genome-wide association studies as potential genetic risk modifiers for BRCA1 and BRCA2 pathogenic variants carriers. Several studies have identified specific polymorphisms that may influence the risk of breast cancer development, either by increasing or reducing susceptibility. These variants are implicated in biological pathways such as DNA damage repair, hormonal regulation or cell proliferation. The identification and understanding of key genetic modifiers may provide valuable insights into development of personalized prevention, targeted therapies and screening strategies for high-risk individuals. This review presents the overview of known genetic risk modifiers for carriers of BRCA1 and BRCA2 pathogenic variants, their potential impact on risk, and their functional roles. Furthermore, it highlights the need for further research directions, including understanding the biological role of genetic modifiers in cancer development and the refinement of risk assessment models.https://doi.org/10.1186/s13053-025-00313-y |
| spellingShingle | Roksana Dwornik Katarzyna Białkowska Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants Hereditary Cancer in Clinical Practice |
| title | Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants |
| title_full | Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants |
| title_fullStr | Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants |
| title_full_unstemmed | Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants |
| title_short | Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants |
| title_sort | insights into genetic modifiers of breast cancer risk in carriers of brca1 and brca2 pathogenic variants |
| url | https://doi.org/10.1186/s13053-025-00313-y |
| work_keys_str_mv | AT roksanadwornik insightsintogeneticmodifiersofbreastcancerriskincarriersofbrca1andbrca2pathogenicvariants AT katarzynabiałkowska insightsintogeneticmodifiersofbreastcancerriskincarriersofbrca1andbrca2pathogenicvariants |