2014
DOI: 10.1186/1471-2407-14-421
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A germline mutation in the BRCA13’UTR predicts Stage IV breast cancer

Abstract: BackgroundA germline, variant in the BRCA1 3’UTR (rs8176318) was previously shown to predict breast and ovarian cancer risk in women from high-risk families, as well as increased risk of triple negative breast cancer. Here, we tested the hypothesis that this variant predicts tumor biology, like other 3’UTR mutations in cancer.MethodsThe impact of the BRCA1-3’UTR-variant on BRCA1 gene expression, and altered response to external stimuli was tested in vitro using a luciferase reporter assay. Gene expression was … Show more

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Cited by 13 publications
(10 citation statements)
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“…MiRNA hsa-miR-525-5p also was downregulated in tumor as compared to non-tumor tissue (p = 0.0044) and rs8176318 was significantly associated with an increase in risk of colon cancer (OR AA 1.34 95% CI 1.01, 1.78). This variant has been reported as being associated with decreased BRCA1 expression, increased breast cancer risk, and greater likelihood of having stage IV breast cancer [ 56 ]. Expression levels of this miRNA are somewhat low, and may therefore less precise, however, together these findings could support the claim that the SNP rs8176318 contributes to the incidence and progression of some breast and colon cancers through altered miRNA regulation within these tissues.…”
Section: Discussionmentioning
confidence: 99%
“…MiRNA hsa-miR-525-5p also was downregulated in tumor as compared to non-tumor tissue (p = 0.0044) and rs8176318 was significantly associated with an increase in risk of colon cancer (OR AA 1.34 95% CI 1.01, 1.78). This variant has been reported as being associated with decreased BRCA1 expression, increased breast cancer risk, and greater likelihood of having stage IV breast cancer [ 56 ]. Expression levels of this miRNA are somewhat low, and may therefore less precise, however, together these findings could support the claim that the SNP rs8176318 contributes to the incidence and progression of some breast and colon cancers through altered miRNA regulation within these tissues.…”
Section: Discussionmentioning
confidence: 99%
“…BRCA1: A functional SNP, rs8176318, located in the 3′UTR of BRCA1, has been reported to predict breast (including TNBC) and ovarian cancer risk in a population of Irish women [30]. This SNP is also influenced by estrogen exposure, implying that the variant poses an elevated risk of developing cancer at menopause or upon estrogen withdrawal.…”
Section: 3’utr Snps and Breast Cancermentioning
confidence: 99%
“…During this time, trophoblast cells rapidly proliferate to form the chorionic girdle, which then invades the endometrium to form epithelial cups (59). It is possible that LY49B is important for successful implantation of the embryo by mediating the action of MHC-1 which is expressed during this time (60,61). However, it is also possible that loss of function in LY49B may result in post-natal juvenile death, which would explain the lack of homozygotes seen in our data.…”
Section: Discussionmentioning
confidence: 79%