Patterns of chromosomal imbalances in invasive breast cancer

Richard, Frank; Pacyna-Gengelbach, Manuela; Schlüns, Karsten; Fleige, Barbara; Winzer, Klaus; Szymaś, Janusz; Dietel, Manfred; Petersen, Iver; Schwendel, Anke

doi:10.1002/1097-0215(20000520)89:3<305::aid-ijc15>3.0.co;2-8

Cited by 90 publications

(50 citation statements)

References 25 publications

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“…These findings are in agreement with previous reports using mCGH that identified 8q gain in 41–65% of post-surgical breast tumor specimens [29], [30], [31], [32], [33], [34], [35], [36], [37], [38], [39], [40], [41], [42], and in 68%–90% of grade 3 tumors [33], [34], [37], [40]. The patterns of 8q gain are not identical between different tumors, with some regions affected more frequently than others.…”

Section: Introductionsupporting

confidence: 93%

“…The patterns of 8q gain are not identical between different tumors, with some regions affected more frequently than others. Our study identified a recurring region of gain on chromosome 8 at band q22 (8q22), a finding of interest because it overlaps with common regions of gain reported independently by others, including 8q21–q23 [35], 8q21-qter [36], [37], [38], [39], [40], [41], [42], 8q22-qter [32] and 8q22–q23 [29], [31], [34], [41]. Higher resolution microarray studies using BAC and oligonucleotide platforms have in some cases allowed better definition of the precise genomic co-ordinates of regions of 8q gain, although the widely differing platforms, sampling characteristics and statistical algorithms for data analysis that have been applied have made consensus difficult [19], [20], [21], [22], [23], [43], [44], [45], [46], [47], [48], [49], [50].…”

Section: Introductionsupporting

confidence: 75%

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Dual-Color Fluorescence In Situ Hybridization Reveals an Association of Chromosome 8q22 but Not 8p21 Imbalance with High Grade Invasive Breast Carcinoma

et al. 2013

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We previously reported molecular karyotype analysis of invasive breast tumour core needle biopsies by comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) (Walker et al, Genes Chromosomes Cancer, 2008 May;47(5):405-17). That study identified frequently recurring gains and losses involving chromosome bands 8q22 and 8p21, respectively. Moreover, these data highlighted an association between 8q22 gain and typically aggressive grade 3 tumors. Here we validate and extend our previous investigations through FISH analysis of tumor touch imprints prepared from excised breast tumor specimens. Compared to post-surgical tumor excisions, core needle biopsies are known to be histologically less precise when predicting tumor grade. Therefore investigating these chromosomal aberrations in tumor samples that offer more reliable pathological assessment is likely to give a better overall indication of association. A series of 60 breast tumors were screened for genomic copy number changes at 8q22 and 8p21 by dual-color FISH. Results confirm previous findings that 8p loss (39%) and 8q gain (74%) occur frequently in invasive breast cancer. Both absolute quantification of 8q22 gain across the sample cohort, and a separate relative assessment by 8q22:8p21 copy number ratio, showed that the incidence of 8q22 gain significantly increased with grade (p = 0.004, absolute and p = 0.02, relative). In contrast, no association was found between 8p21 loss and tumor grade. These findings support the notion that 8q22 is a region of interest for invasive breast cancer pathogenesis, potentially harboring one or more genes that, when amplified, precipitate the molecular events that define high tumor grade.

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Section: Introductionsupporting

confidence: 93%

Section: Introductionsupporting

confidence: 75%

Dual-Color Fluorescence In Situ Hybridization Reveals an Association of Chromosome 8q22 but Not 8p21 Imbalance with High Grade Invasive Breast Carcinoma

et al. 2013

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“…The TNBC group exhibited higher transcript expression levels on chromosome 6 compared with the Non-TNBC and HER2-positive breast cancer types (Figure 2B, Supplementary Figure 9). Frequent gains in chromosome 6p have been shown to be associated with poor prognosis in several cancers44, including invasive ductal carcinoma4546. In general, the transcript abundance was higher in TNBC than in the other two groups.…”

Section: Resultsmentioning

confidence: 95%

Transcriptomic landscape of breast cancers through mRNA sequencing

Eswaran

Cyanam

Mudvari

et al. 2012

Sci Rep

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Breast cancer is a heterogeneous disease with a poorly defined genetic landscape, which poses a major challenge in diagnosis and treatment. By massively parallel mRNA sequencing, we obtained 1.2 billion reads from 17 individual human tissues belonging to TNBC, Non-TNBC, and HER2-positive breast cancers and defined their comprehensive digital transcriptome for the first time. Surprisingly, we identified a high number of novel and unannotated transcripts, revealing the global breast cancer transcriptomic adaptations. Comparative transcriptomic analyses elucidated differentially expressed transcripts between the three breast cancer groups, identifying several new modulators of breast cancer. Our study also identified common transcriptional regulatory elements, such as highly abundant primary transcripts, including osteonectin, RACK1, calnexin, calreticulin, FTL, and B2M, and “genomic hotspots” enriched in primary transcripts between the three groups. Thus, our study opens previously unexplored niches that could enable a better understanding of the disease and the development of potential intervention strategies.

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“…Although screening mammograms are more likely to miss tumors of invasive lobular histology presumably because of the lack of a stromal response (23), there was no significant difference in histology by method of detection in our study. Gains in 2p have been associated with high-grade tumors and estrogen receptor negativity (33) while gains in 3q, 8q, 11p and 20q have been consistently associated with breast cancers of higher malignant potential including familial ( BRCA1 and 2 ), basal-like and luminal-B tumors (34–39). Our study findings are therefore highly compatible with the concept that specific CNIs underlie breast tumor biology as driver events and that their detection with advanced technologies like MIP arrays may prove useful in discriminating between tumors with differing malignant potential.…”

Section: Discussionmentioning

confidence: 99%

Copy Number Imbalances between Screen- and Symptom-Detected Breast Cancers and Impact on Disease-Free Survival

Brewster¹,

Thompson²,

Şahin³

et al. 2011

Cancer Prevention Research

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Background Screening mammography results in the increased detection of indolent tumors. We hypothesized that screen and symptom-detected tumors would show genotypic differences as copy number imbalances (CNIs) that in part explain differences in the clinical behavior between screen and symptom-detected breast tumors. Methods We evaluated 850 women aged ≥ 40 diagnosed with stage I–II breast cancer at the MD Anderson Cancer Center between 1985 to 2000 with information available on method of tumor detection (screen versus symptoms). CNIs in screen and symptom-detected tumors were identified using high-density molecular inversion probe arrays. Cox proportional modeling was used to estimate the effect of method of tumor detection on disease-free survival after adjusting for age, stage and the CNIs. Results The majority of tumors were symptom-detected (n=603) compared to screen-detected (n=247). Copy number gains in chromosomes 2p, 3q, 8q, 11p and 20q were associated with method of breast cancer detection (p<0.00001). We estimated that 32% and 63% of the survival advantage of screen-detection was accounted for by age, stage, nuclear grade and Ki67 in women aged 50–70 and aged 40–87, respectively. In each age category, an additional 20% of the survival advantage was accounted for by CNIs associated with method of detection. Conclusion Specific CNIs differ between screen and symptom-detected tumors and explain part of the survival advantage associated with screen-detected tumors. Measurement of tumor genotype has the potential to improve discrimination between indolent and aggressive screen-detected tumors and aid patient and physician decision making about use of surgical and adjuvant treatments.

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Patterns of chromosomal imbalances in invasive breast cancer

Cited by 90 publications

References 25 publications

Dual-Color Fluorescence In Situ Hybridization Reveals an Association of Chromosome 8q22 but Not 8p21 Imbalance with High Grade Invasive Breast Carcinoma

Dual-Color Fluorescence In Situ Hybridization Reveals an Association of Chromosome 8q22 but Not 8p21 Imbalance with High Grade Invasive Breast Carcinoma

Transcriptomic landscape of breast cancers through mRNA sequencing

Copy Number Imbalances between Screen- and Symptom-Detected Breast Cancers and Impact on Disease-Free Survival

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