Establishment of the epithelial-specific transcriptome of normal and malignant human breast cells based on MPSS and array expression data

Grigoriadis, Anita; Mackay, Alan; Reis‐Filho, Jorge S.; Steele, Dawn; Iseli, Christian; Stevenson, Brian J.; Jongeneel, C. Victor; Valgeirsson, Haukur; Fenwick, Kerry; Iravani, Marjan; Leão, Maria Ignêz; Simpson, Andrew J.G.; Strausberg, Robert L.; Jat, Parmjit; Ashworth, Alan; Neville, A. Munro; O’Hare, Michael J.

doi:10.1186/bcr1604

Cited by 124 publications

(140 citation statements)

References 52 publications

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“…First, how do our results compare to existing expression data from human breast tissue? Most existing breast tissue expression signatures were derived to predict tumor subtype 29,30 or disease outcome, [31][32][33][34][35] or to distinguish luminal from myoepithelial cells in RM tissue, 28,36 as opposed to distinguishing between patients with and without breast cancer, and so are not directly comparable to our data. It is therefore not surprising that few of the genes that we find to vary between CN and RM epithelium have been useful in predicting tumor subtype, disease outcome, or epithelial cell type (analyses not shown).…”

Section: Discussioncontrasting

confidence: 51%

“…28 We found that 75 of the 105 genes in our list were also differentially expressed between cancer and normal epithelium in that study, and that 80% of these 75 genes showed the same direction of change in both datasets, indicating significant concordance (v 2 test; p 5 0.0002) and demonstrating the similar differential expression of the majority of the 105 genes in an independent data set (see Supplemental File 2).…”

Section: Validation Of Microarray Datamentioning

confidence: 75%

“…38 There is also overlap between our results and those reported in a study comparing luminal epithelium from RM and cancers. 28 These reports, combined with the fact that the CN vs. RM differences are largely preserved in the independent CIS samples we examined, suggest that the CN vs. RM differences are authentic alterations reflecting a breast cancer related process.…”

Section: Discussionmentioning

confidence: 94%

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Gene expression abnormalities in histologically normal breast epithelium of breast cancer patients

Tripathi

King

Morenas

et al. 2008

Intl Journal of Cancer

114

109

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Normal‐appearing epithelium of cancer patients can harbor occult genetic abnormalities. Data comprehensively comparing gene expression between histologically normal breast epithelium of breast cancer patients and cancer‐free controls are limited. The present study compares global gene expression between these groups. We performed microarrays using RNA from microdissected histologically normal terminal ductal‐lobular units (TDLU) from 2 groups: (i) cancer normal (CN) (TDLUs adjacent to untreated ER+ breast cancers (n = 14)) and (ii) reduction mammoplasty (RM) (TDLUs of age‐matched women without breast disease (n = 15)). Cyber‐T identified differentially expressed genes. Quantitative RT‐PCR (qRT‐PCR), immunohistochemistry (IHC), and comparison to independent microarray data including 6 carcinomas in situ (CIS), validated the results. Gene ontology (GO), UniProt and published literature evaluated gene function. About 127 probesets, corresponding to 105 genes, were differentially expressed between CN and RM (p < 0.0009, corresponding to FDR <0.10). 104/127 (82%) probesets were also differentially expressed between CIS and RM, nearly always (102/104 (98%)) in the same direction as in CN vs. RM. Two‐thirds of the 105 genes were implicated previously in carcinogenesis. Overrepresented functional groups included transcription, G‐protein coupled and chemokine receptor activity, the MAPK cascade and immediate early genes. Most genes in these categories were under‐expressed in CN vs. RM. We conclude that global gene expression abnormalities exist in normal epithelium of breast cancer patients and are also present in early cancers. Thus, cancer‐related pathways may be perturbed in normal epithelium. These abnormalities could be markers of disease risk, occult disease, or the tissue's response to an existing tumor. © 2007 Wiley‐Liss, Inc.

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Section: Discussioncontrasting

confidence: 51%

Section: Validation Of Microarray Datamentioning

confidence: 75%

Section: Discussionmentioning

confidence: 94%

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Gene expression abnormalities in histologically normal breast epithelium of breast cancer patients

Tripathi

King

Morenas

et al. 2008

Intl Journal of Cancer

114

109

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“…Periostin is highly expressed during the earliest stages of bone fracture repair [15] and vascular injury [16] and periostin signaling induces the expression of molecules associated with cutaneous wound repair such as collagen and fibronectin [17,18]. A role in cancer cell metastasis has also been suggested, as periostin is a recognize component of stromal reactions in a variety of tumor types [19][20][21][22][23][24][25][26][27][28][29]. While DD shares some characteristics with each of these repair and disease processes, the role(s) of periostin in this fibromatosis is yet to be determined.…”

Section: Introductionmentioning

confidence: 99%

Periostin differentially induces proliferation, contraction and apoptosis of primary Dupuytren's disease and adjacent palmar fascia cells

Vi¹,

Feng²,

Zhu³

et al. 2009

Experimental Cell Research

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Dupuytren's disease, (DD), is a fibroproliferative condition of the palmar fascia in the hand, typically resulting in permanent contracture of one or more fingers. This fibromatosis is similar to scarring and other fibroses in displaying excess collagen secretion and contractile myofibroblast differentiation. In this report we expand on previous data demonstrating that POSTN mRNA, which encodes the extra-cellular matrix protein periostin, is up-regulated in Dupuytren's disease cord tissue relative to phenotypically normal palmar fascia. We demonstrate that the protein product of POSTN, periostin, is abundant in Dupuytren's disease cord tissue while little or no periostin immunoreactivity is evident in patient-matched control tissues. The relevance of periostin up-regulation in DD was assessed in primary cultures of cells derived from diseased and phenotypically unaffected palmar fascia from the same patients. These cells were grown in type-1 collagen-enriched culture conditions with or without periostin addition to more closely replicate the in vivo environment. Periostinwas found to differentially regulate the apoptosis, proliferation, α smooth muscle actin expression and stressed Fibroblast Populated Collagen Lattice contraction of these cell types. We hypothesize that periostin, secreted by disease cord myofibroblasts into the extra-cellular matrix, promotes the transition of resident fibroblasts in the palmar fascia toward a myofibroblast phenotype, thereby promoting disease progression.

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“…10,11 Some studies have showed that MRPS30 is not expressed in normal breast luminal epithelial cells, but it is upregulated in infiltrating ductal carcinomas. 16 Moreover, it was also a part of a gene expression profile that differentiated ER-positive from ER-negative breast tumors. 11 Interestingly, a SNP rs3761648 in 5' near of MRPS30 is highly correlated with the SNP rs4415084 (r 2 ¼ 0.83 in HapMap CHB, r 2 ¼ 0.72 in HapMap CEU) and located at a site of H3K4Me3 histone modification marks.…”

Section: Discussionmentioning

confidence: 99%

Genetic variants at 5p12 and risk of breast cancer in Han Chinese

et al. 2012

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A genome-wide association study, conducted among women of European ancestry, has identified two single-nucleotide polymorphisms (SNPs) rs4415084 (T4C) and rs10941679 (A4G) at chromosome 5p12 were associated with risk of breast cancer, suggesting that genetic variants in this region may have a role in the development of breast cancer. To investigate the associations between SNPs at 5p12 and risk of breast cancer in the Chinese population, we conducted a fine-mapping in 5p12 using a haplotype-tagging SNP approach and genotyped these SNPs with a case-control study consisting of 878 cases and 900 controls. We found that the two risk SNPs reported in the European population were neither associated with breast cancer risk in our Chinese population, nor did the fine-mapping SNPs after controlling multiple comparison.

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Establishment of the epithelial-specific transcriptome of normal and malignant human breast cells based on MPSS and array expression data

Cited by 124 publications

References 52 publications

Gene expression abnormalities in histologically normal breast epithelium of breast cancer patients

Gene expression abnormalities in histologically normal breast epithelium of breast cancer patients

Periostin differentially induces proliferation, contraction and apoptosis of primary Dupuytren's disease and adjacent palmar fascia cells

Genetic variants at 5p12 and risk of breast cancer in Han Chinese

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