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Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis.

Publication ,  Journal Article
Huo, X; Hu, Z; Zhai, X; Wang, Y; Wang, S; Wang, X; Qin, J; Chen, W; Jin, G; Liu, J; Gao, J; Wei, Q; Wang, X; Shen, H
Published in: Breast Cancer Res Treat
May 2007

The BRCA1 Associated RING Domain (BARD1) gene has been identified as a high penetrance gene for breast cancer, whose germline and somatic mutations were reported in both non-BRCA1/2 hereditary site-specific and sporadic breast cancer cases. BARD1 plays a crucial role in tumor repression, along with its heterodimeric partner BRCA1. In the current study, we tested the hypothesis that common non-synonymous polymorphisms in BARD1 are associated with breast cancer susceptibility in a case-control study of 507 patients with incident breast cancer and 539 frequency-matched cancer-free controls in Chinese women. We genotyped all three common (minor allele frequency (MAF)>0.10) non-synonymous polymorphisms (Pro24Ser, Arg378Ser, and Val507Met) in BARD1. We found that the BARD1 Pro24Ser variant genotypes (24Pro/Ser and 24Ser/Ser) and Arg378Ser variant homozygote 378Ser/Ser were associated with a significantly decreased breast cancer risk, compared with their wild-type homozygotes, respectively. Furthermore, a significant locus-locus interaction was evident between Pro24Ser and Arg378Ser (P(int )= 0.032). Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR=1.81, 95% CI=1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk (adjusted OR=0.74, 95% CI=0.56-0.99). In stratified analysis, this locus-locus interaction was more evident among subjects without family cancer history, those with positive estrogen receptor (ER) and individuals with negative progesterone receptor (PR). These findings indicate that the potentially functional polymorphisms Pro24Ser and Arg378Ser in BARD1 may jointly contribute to the susceptibility of breast cancer.

Duke Scholars

Published In

Breast Cancer Res Treat

DOI

ISSN

0167-6806

Publication Date

May 2007

Volume

102

Issue

3

Start / End Page

329 / 337

Location

Netherlands

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Tumor Suppressor Proteins
  • Reverse Transcriptase Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Penetrance
  • Oncology & Carcinogenesis
  • Molecular Sequence Data
  • Middle Aged
  • Linkage Disequilibrium
  • Humans
 

Citation

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Huo, X., Hu, Z., Zhai, X., Wang, Y., Wang, S., Wang, X., … Shen, H. (2007). Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis. Breast Cancer Res Treat, 102(3), 329–337. https://doi.org/10.1007/s10549-006-9332-7
Huo, Xiang, Zhibin Hu, Xiangjun Zhai, Yan Wang, Shui Wang, Xuechen Wang, Jianwei Qin, et al. “Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis.Breast Cancer Res Treat 102, no. 3 (May 2007): 329–37. https://doi.org/10.1007/s10549-006-9332-7.
Huo, Xiang, et al. “Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis.Breast Cancer Res Treat, vol. 102, no. 3, May 2007, pp. 329–37. Pubmed, doi:10.1007/s10549-006-9332-7.
Huo X, Hu Z, Zhai X, Wang Y, Wang S, Wang X, Qin J, Chen W, Jin G, Liu J, Gao J, Wei Q, Shen H. Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis. Breast Cancer Res Treat. 2007 May;102(3):329–337.
Journal cover image

Published In

Breast Cancer Res Treat

DOI

ISSN

0167-6806

Publication Date

May 2007

Volume

102

Issue

3

Start / End Page

329 / 337

Location

Netherlands

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Tumor Suppressor Proteins
  • Reverse Transcriptase Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Penetrance
  • Oncology & Carcinogenesis
  • Molecular Sequence Data
  • Middle Aged
  • Linkage Disequilibrium
  • Humans