Whole‐arm t(1;16) and i(1q) as sole anomalies identify gain of 1 q as a primary chromosomal abnormality in breast cancer

Pandis, Nikos; Heim, Sverre; Bardi, Georgia; Idvall, Ingrid; Mandahl, Nils; Mitelman, Felix

doi:10.1002/gcc.2870050310

Cited by 101 publications

(69 citation statements)

References 19 publications

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“…The frequently occurring whole-arm gains of lq and 8q have been previously reported in primary tumors by cytogenetic techniques (6,19), but most of the regional copy-number changes have not. 17q22-q24 and 20q13 emerged as major regions of amplification in breast cancer that had not been reported.…”

Section: Methodsmentioning

confidence: 86%

Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization.

Kallioniemi

Piper

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

647

433

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Comparative genomic hybridization was applied to 5 breast cancer cell lHes and 33 primary tumors to discover and map regions of the genome with increased DNAsequence copy-number. Two-thirds of primary tumors and almost all cell lines showed increased DNA-sequence copynumber affecting a total of 26 chromosomal subregions. Most of these loci were distinct from those of currently known amplified genes in breast cancer, with sequences originating from 17q22-q24 and 20q13 showing the highest frequency of amplification. The results indicate that these chromosomal regions may contain previously unknown genes whose increased expression contributes to breast cancer progression.Chromosomal regions with increased copy-number often spanned tens of Mb, suggesting involvement of more than one gene in each region.Increased expression of specific genes plays an important role in the pathogenesis of solid tumors (1-3). Gene amplification, characterized by distinct cytogenetic structures, such as homogeneously stained regions, double-minute chromosomes (1-7), is commonly found in tumor cells and is considered an important mechanism by which tumor cells gain increased levels of expression of critical genes. Increased copy-numbers also occur as a result of extensive chromosomal rearrangements, such as duplications, isochromosomes, extra marker chromosomes, and acentric chromosomal fragments that may affect the gene dosage of numerous genes simultaneously. In breast cancer, cytogenetic evidence of increased DNA-sequence copy-number is common (4-7). For example, homogeneously stained regions have been found in 60% of primary breast carcinomas (7). Although genetic analysis has found amplification of oncogenes, such as ERBB2 (17q12), MYC (8q24), PRADII CYCLIN D (11q13), FLG (8p12), BEK (10q24), and IGFR-1/FES (15q24-q25) (8-12), in most cases these do not explain the presence of large homogeneously stained regions (13). Thus, amplification of currently unknown genes may often occur in breast cancer.We have recently developed a method, comparative genomic hybridization (CGH), for surveying entire genomes for DNA-sequence copy-number variation (14, 15). In CGH, the relative intensities of tumor DNA (detected using green fluorescence) and normal reference DNA (detected with red fluorescence) after hybridization to normal metaphase chromosomes is used to reveal and map regions of increased DNA-sequence copy number (14-16). These loci are visualized as chromosomal region(s) with predominantly green fluorescence ( Fig. 1) and quantified by digital image analysis as an increased green-to-red fluorescence intensity ratio (Fig. 2). As no specific probes or previous knowledge of aberrations is required, CGH is especially suitable for identification and mapping of previously unknown DNA copy-number changes that may highlight locations of important genes. In the present study, we have used CGH to identify and map increases in DNA-sequence copy number in 15 breast cancer cell lines and 33 uncultured primary breast tumors. MATERIALS AND ME...

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Section: Methodsmentioning

confidence: 86%

Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization.

Kallioniemi

Piper

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

647

433

View full text Add to dashboard Cite

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“…4 -17 Most reported studies of chromosomal aneusomy have been of invasive carcinoma, and few studies have investigated preinvasive lesions of the breast. Mendelin et al 8 compared the pattern of aneuploidy for chromosomes 7,8,16, and 17 between foci of residual ductal carcinoma in situ and a representative area of coexisting invasive neoplasm. In that study, 53% of cases showed a gain in chromosomal copy number between the in situ and the corresponding invasive area, 29% showed no apparent change, and 13% showed a loss in copy number.…”

Section: Discussionmentioning

confidence: 99%

Feasibility and utility of using chromosomal aneusomy to further define the cytologic categories in nipple aspirate fluid specimens

Krishnamurthy

Zhao

Hayes

et al. 2004

Cancer

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“…Chromosomal abnormalities in 1q are common in a wide range of solid tumors including carcinomas (Brito-Babapulle and Atkin, 1981;Douglass et al, 1985) and some leukemias (Oshimura et al, 1976). Trisomy of 1q or a portion of 1q has been shown to be frequently present in carcinomas including breast carcinoma (Pandis et al, 1992;Ried et al, 1995), and large bowel adenocarcinomas (Reichmann et al, 1984). This has led to the speculation that over-expression of a gene or genes between 1q24 and 1q32 contributes to tumor progression in carcinomas (Chromosome 1 workshop 1995).…”

Section: Discussionmentioning

confidence: 99%

A novel epithelial-expressed ETS gene, ELF3: human and murine cDNA sequences, murine genomic organization, human mapping to 1q32.2 and expression in tissues and cancer

et al. 1997

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The ETS family of genes are implicated in cancers such as Ewings sarcoma, acute myeloid leukemia and chronic myelomoncytic leukemia. Further, they have important functions in embryonic development. Hence, identi®ca-tion and characterization of members of this family are important. We identify a novel ETS family member, ELF3, and report its human and murine cDNA sequences. The mouse cDNA has an alternatively spliced transcript with an extra 60 bp inserted. Hence we present the organization of the murine Elf3 gene together with its exon/intron structure. This gene consists of 9 exons and 8 introns spanning 4.8 kb. ELF3 binds and transactivates ETS sequences and interestingly also shows the ability to bind a GGAT-like purine core, a preferential ETS1/ETS2 type binding site. The expression of ELF3, unlike most other ETS family members, is absent in hematopoietic cells and hematopoietic organs in humans and mice. Intriguingly, the gene is speci®cally expressed in cell lines of epithelial origin and in organs such as lung, stomach, intestine, kidney that have specialized epithelial cells. We localize the human gene to 1q32.2, a region that is ampli®ed in epithelial tumors of the breast, lung and prostate. Finally, we show that ELF3 expression is increased in a lung carcinoma and adenocarcinoma, as compared to normal tissue. ELF3 is also expressed in cell lines derived from lung cancers. These results suggest that this novel ETS gene may be involved in lung tumorigenesis.

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Whole‐arm t(1;16) and i(1q) as sole anomalies identify gain of 1 q as a primary chromosomal abnormality in breast cancer

Cited by 101 publications

References 19 publications

Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization.

Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization.

Feasibility and utility of using chromosomal aneusomy to further define the cytologic categories in nipple aspirate fluid specimens

A novel epithelial-expressed ETS gene, ELF3: human and murine cDNA sequences, murine genomic organization, human mapping to 1q32.2 and expression in tissues and cancer

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