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Open AccessTumoral BRD4 expression in lymph node-negative breast cancer: association with T-bet+ tumor-infiltrating lymphocytes and disease-free survival
We previously observed that T-bet+ tumor-infiltrating T lymphocytes (T-bet+ TILs) in primary breast tumors were associated with adverse clinicopathological features, yet favorable clinical outcome. We identifi...
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Open AccessNon-invasive optical spectroscopic monitoring of breast development during puberty
Tanner staging (TS), a five-stage classification indicating no breast tissue (TS1) to full breast development (TS5), is used both in health research and clinical care to assess the onset of breast development ...
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Article
Open AccessMenacalc, a quantitative method of metastasis assessment, as a prognostic marker for axillary node-negative breast cancer
Menacalc is an immunofluorescence-based, quantitative method in which expression of the non-invasive Mena protein isoform (Mena11a) is subtracted from total Mena protein expression. Previous work has found a sign...
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Article
ERβ splice variant expression in four large cohorts of human breast cancer patient tumors
Though the role of Estrogen Receptor (ER)α in breast cancer has been studied extensively, there is little consensus about the role of alternative ER isoform ERβ in breast cancer biology. ERβ has significant se...
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Article
Open AccessClinical–pathologic significance of cancer stem cell marker expression in familial breast cancers
Human breast cancer cells with a CD44+/CD24−/low or ALDH1+ phenotype have been demonstrated to be enriched for cancer stem cells (CSCs) using in vitro and in vivo techniques. The aim of this study was to determin...
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Article
Elevated expression of podocalyxin is associated with lymphatic invasion, basal-like phenotype, and clinical outcome in axillary lymph node-negative breast cancer
Lymphatic invasion (LVI) is associated with disease recurrence in axillary node-negative (ANN) breast cancer. Using gene expression profiling of 105 ANN tumors, we found that podocalyxin (PODXL) was more highl...
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Article
EMSY and CCND1 amplification in familial breast cancer: from the Ontario site of the Breast Cancer Family Registry
EMSY is a putative oncogene amplified in a minority of breast carcinomas, its protein product interacts with and transcriptionally silences BRCA2. We hypothesized that breast tumors from BRCA2 mutation carriers w...
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Erratum to: Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors
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Open AccessGenome-wide association analyses of North American Rheumatoid Arthritis Consortium and Framingham Heart Study data utilizing genome-wide linkage results
The power of genome-wide association studies can be improved by incorporating information from previous study findings, for example, results of genome-wide linkage analyses. Weighted false-discovery rate (FDR)...
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Open AccessTransmission-ratio distortion in the Framingham Heart Study
Transmission-ratio distortion (TRD) is a phenomenon in which the segregation of alleles does not obey Mendel's laws. As a simple example, a recessive locus that results in fetal lethality will result in live-b...
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Open AccessExpression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors
Background BRCA1- and BRCA2-associated tumors appear to have distinct molecular signatures. BRCA1-associated tumors are predominantly basal-like cancers, whereas B...
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Article
JAG1 expression is associated with a basal phenotype and recurrence in lymph node-negative breast cancer
Expression of the JAG1 Notch ligand has previously been shown to correlate with poor overall survival in women with advanced breast cancer. We undertook to test whether expression of JAG1 is associated with re...
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Open AccessApplication of bivariate mixed counting process models to genetic analysis of rheumatoid arthritis severity
We sought to i) identify putative genetic determinants of the severity of rheumatoid arthritis in the NARAC (North American Rheumatoid Arthritis Consortium) data, ii) assess whether known candidate genes for d...
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Type of TP53 mutation and ERBB2 amplification affects survival in node-negative breast cancer
Alterations of TP53 and ERBB2 have been shown to play important roles in the prognosis of breast cancer. The primary objective of this study is to characterize TP53 mutation types in node negative breast cance...
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Open AccessThe interaction of PP1 with BRCA1 and analysis of their expression in breast tumors
The breast cancer susceptibility gene, BRCA1, is implicated in multiple cellular processes including DNA repair, the transactivation of genes, and the ubiquitination of proteins; however its precise functions rem...
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Article
Open AccessComparison of genotype- and haplotype-based approaches for fine-map** of alcohol dependence using COGA data
It is generally assumed that the detection of disease susceptibility genes via fine-map** association study is facilitated by consideration of marker haplotypes. In this study, we compared the performance of...
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Open AccessGenome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets
Systolic blood pressure (SBP) is an age-dependent complex trait for which both environmental and genetic factors may play a role in explaining variability among individuals. We performed a genome-wide scan of ...