The PCR-PIRA and PCR-RFLP techniques were used for BARD1 genotyping. Correlations between gene polymorphisms and the susceptibility to breast cancer were analyzed by logistic regression analysis. Results showed that compared with the wild type of 378 Arg/Arg of BRAD1, the homozygotic type of 378 Ser/Ser with Arg378Ser site mutation had a protective effect (adjusted odds ratio: 0.628, 95% confidence interval: 0.306-1.145). Compared with individuals carrying the wild type of 24Pro/Pro, the disease risk of individuals with the heterozygous type of 24 Pro/Ser decreased by 30.6% and that with the mutational homozygotic type of 24 Ser/Ser decreased by 43.8%. SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094.
MikiYSwensenJShattuck-EidensD. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66-71.
2.
BaerRLudwigT. The BRCA1/BARD1 heterodimer, a tumor suppressor complex with ubiquitin E3 ligase activity. Curr Opin Genet Dev. 2002;12:86-91.
3.
SimonsAMHoewitzAAStaritaLM. BRCA1 DNA-binding activity is stimulated by BARD1. Cancer Res. 2006;66:2012-2018.
4.
CoughlinSSPiperM. Genetic polymorphisms and risk of breast cancer. Cancer Epidemiol Biomarker Prev. 1999;8:1023-1032.
5.
de JongMMNolteIMte MeermanGJ. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet. 2002;39:225-242.
6.
DapicVCarvalhoMAMonteiroAN. Breast cancer susceptibility and the DNA damage response. Cancer Control. 2005;12:127-136.
7.
GoodeELUlrichCMPotterJD. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev. 2002;11:1513-1530.
8.
BalmainAGrayJPonderB. The genetics and genomics of cancer. Nat Genet. 2003;33(suppl):238-244.
9.
KeXCollinsAYeS. PIRA PCR designer for restriction analysis of single nucleotide polymorphisms. Bioinformatics. 2001;17:838-839.
10.
BaerRLudwigT. The BRCA1/BARD1 heterodimer, a tumor suppressor complex with ubiquitin E3 ligase activity. Curr Opin Genet Dev. 2002;12:86-91.
11.
WestermarkUKReyngoldMOlshenABBaerRJasinMMoynahanME. BARD1 participates with BRCA1 in homology-directed repair of chromosome breaks. Mol Cell Biol. 2003;23:7926-7936.
12.
SchüchnerSTembeVRodriguezJAHendersonBR. Nuclear targeting and cell cycle regulatory function of human BARD1. J Biol Chem. 2005;280:8855-8861.
13.
RodriguezJASchüchnerSAuWWFabbroMHendersonBR. Nuclear-cytoplasmic shuttling of BARD1 contributes to its proapoptotic activity and is regulated by dimerization with BRCA1. Oncogene. 2004;2:1809-1820.
14.
KarppinenSMBarkardottirRBBackenhornK. Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies. J Med Genet. 2006;43:856-862.
15.
ThompsonME. BRCA1 16 years later: nuclear import and export processes. FEBS J. 2010;277:3072-3078.
16.
Irminger-FingerILeungWCLiJ. Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis. Mol Cell. 2001;8:1255-1266.
17.
Irminger-FingerILeungWC. BRCA1-dependent and independent functions of BARD1. Int J Biochem Cell Biol. 2002;34:582-587.
18.
ThaiTHDuFTsanJT. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. Hum Mol Genet. 1998;7:195-202.
19.
GhimentiCSensiEPresciuttiniS. Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations. Genes Chromosomes Cancer. 2002;33:235-242.
20.
KarppinenSHeikkinenKRapakkoKWinqvistR. Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. J Med Genet. 2004;41:e114.
21.
HuCJMaBL. Expression of BARD1 in Xinjiang Uygur women breast cancer and their clinical significance. J Xinjiang Med Univ. 2010;33:149-152.
22.
ZhangYQPilyuginMKuesterD. Expression of oncogenic BARD1 isoforms affects colon cancer progression and correlates with clinical outcome. Br J Cancer. 2012;107:675-683.
23.
IshitobiMMiyoshiYHasegawaS. Mutational analysis of BARD1 in familial breast cancer patients in Japan. Cancer Lett. 2003;200:1-7.
24.
VahteristoPSyrjakoskiKHeikkinenT. BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. Eur J Hum Genet. 2006;14:167-172.
25.
Irminger-FingerI. BARD1, a possible biomarker for breast and ovarian cancer. Gynecol Oncol. 2010;117:211-215.
26.
LiLRyserSDizinE. Oncogenic BARD1 isoforms expressed in gynecological cancers. Cancer Res. 2007;67:11876-11885.
27.
ZhangYQBiancoAMalkinsonAM. BARD1: an independent predictor of survival in non-small cell lung cancer. Int J Cancer. 2012;131:83-94.
28.
BosseKRDiskinSJColeKA. Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Res. 2012;72:2068-2078.
29.
AlshatwiAAHasanTNSyedNAShafiGGraceBL. Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database. PLOS One. 2012;7:e43939.
