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Updated: Jun 29, 2026

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 18, 2011
Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast
Xiang Huo1, Zhibin Hu, Xiangjun Zhai
1Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
Common genetic variations in the BRCA1 Associated RING Domain (BARD1) gene may influence breast cancer risk. Specific BARD1 polymorphisms, Pro24Ser and Arg378Ser, show a combined effect on susceptibility in Chinese women.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- The BRCA1 Associated RING Domain (BARD1) gene is implicated in tumor suppression and breast cancer development.
- Mutations in BARD1 have been linked to hereditary and sporadic breast cancers, highlighting its role alongside BRCA1.
- Understanding the impact of common genetic variations in BARD1 is crucial for assessing breast cancer susceptibility.
Purpose of the Study:
- To investigate the association between common non-synonymous polymorphisms in the BARD1 gene and breast cancer risk.
- To examine potential interactions between BARD1 polymorphisms and breast cancer susceptibility in Chinese women.
- To identify specific BARD1 variants that may modify breast cancer risk.
Main Methods:
- A case-control study was conducted with 507 breast cancer patients and 539 cancer-free controls.
- Genotyping was performed for three common non-synonymous BARD1 polymorphisms: Pro24Ser, Arg378Ser, and Val507Met.
- Statistical analyses, including locus-locus interaction analysis, were used to assess the association between genotypes and breast cancer risk.
Main Results:
- The BARD1 Pro24Ser variant genotypes and Arg378Ser variant homozygote were associated with decreased breast cancer risk.
- A significant interaction between Pro24Ser and Arg378Ser polymorphisms was observed (P(int) = 0.032).
- Among Arg378Ser carriers, specific Pro24Ser genotypes showed increased or decreased breast cancer risk, particularly in subgroups without family history or with specific ER/PR status.
Conclusions:
- Potentially functional polymorphisms Pro24Ser and Arg378Ser in BARD1 may jointly influence breast cancer susceptibility.
- The combined effect of these BARD1 variants suggests a complex genetic contribution to breast cancer risk.
- These findings contribute to understanding the role of BARD1 in breast cancer etiology, especially in specific demographic and clinical subgroups.
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