bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromosomal markers of immortalization in human breast epithelium
Authors: Wolman Sandra R. , Mohamed Anwar N. , Heppner Gloria H. , Soule Herbert D. 
Published: February 2007

AbstractWe describe a series of five immortal breast cell lines that have emerged independently from diploid cultures from two individuals. We have karyotyped representative cultures of each of these lines prior to and at intervals after immortalization. Although considerable diversity of chromosomal aberration was found among the five lines, analysis of sublines has defined the chromosomal changes common for each immortalization. These changes differed both within and between the individual patient sources. Some common alterations were noted in lines from both patients, however, including loss of the short arm of chromosome 20 and gain of I q. We suggest that genes within these chromosomal regions contribute to spontaneous immortalization of human breast epithelium. Genes Chrom Cancer 10:59–65 (1994). © 1994 Wiley‐Liss, Inc.
Localisation of the breast‐ovarian cancer susceptibility gene (BRCAI) on 17q12–21 to an interval of ⩽IcM
Authors: Smith Simon A. , Dicioccio Richard A. , Struewing Jeffery P. , Easton Douglas F. , Gallion Holly H. , Albertsen Hans , Mazoyer Sylvie , Johansson Bertil , Steichen‐Gersdorf Elisabeth , Stratton Mike , Ford Debbie , Marshall Gill , White Raymond L. , Piver M. Steven , Ponder Bruce A. J. 
Published: February 2007

AbstractA breast‐ovarian cancer susceptibility gene, BRCAI, which is responsible for disease in approximately 45% of breast cancer families and most families that contain breast and ovarian cancer, has been assigned by genetic linkage to 17q12–21. Here, we report the analysis of three marker‐disease recombinants in families that contain breast and ovarian cancer, two of which strongly suggest a location for BRCAI telomeric to D17S702, a microsatellite polymorphism, and a third which suggests a location centromeric to EDH17B, the gene encoding estradiol‐17B dehydrogenase. If the interpretation of these recombinants is correct, the results localise BRCA to an interval of ⩽cM. Genes Chrom Cancer 10:71–76 (1994). © 1994 Wiley‐Liss, Inc.
Complex composition and co‐amplification of SAS and MDM2 in ring and giant rod marker chromosomes in well‐differentiated liposarcoma
Authors: Pedeutour Florence , Suijkerbuijk Ron F. , Forus Anne , Van Gaal Jose , Van De Klundert Willemijn , Coindre Jean‐Michel , Nicolo Guido , Collin Françoise , Van Haelst Urbain , Huffermann Karin , Turc‐Carel Claude 
Published: February 2007

AbstractExtra abnormal chromosomes (rings and giant rods) containing chromosome 12 sequences are characteristic of well‐differentiated liposarcoma (WDLPS). By whole chromosome painting we found in 6 WDLPS that minimally 5 chromosomes had contributed to the formation of the extra abnormal chromosomes. To the constant chromosome 12 contribution, sequences were variably added from chromosomes 1, 4, and 16. Material from chromosomes 1, 4, and 12 was identified by painting in interphase nuclear projections (“blebs”) and in micronuclei consistent with the concept that blebs are precursors to micronuclei. The complexity of the mechanisms generating the extra abnormal chromosomes in WDLPS was also attested to by the diversity and, in some cases, intricacy of the patterns of fluorescence. To begin to fathom the function of the extra abnormal chromosomes we examined the amplification of genes, including SAS, MDM2, and GADDI53/CHOP, known to be in the region 12q 13–14. SAS and MDM2 demonstrated constant co‐amplification. GADD153/CHOP, which is critically rearranged in myxoid liposarcoma, was not amplified in WDLPS. Genes Chromosom Cancer 10:85–94 (1994). © 1994 Wiley‐Liss, Inc.
Non‐random chromosome rearrangements in adenoid cystic carcinoma of the salivary glands
Authors: Nordkvist Anders , Mark Joachim , Gustafsson Hans , Bang Gisle , Stenman GÖRan 
Published: February 2007

AbstractThe chromosomal findings in 10 adenoid cystic carcinomas (ACC) of the salivary glands are described. Clonal numerical deviations as the sole anomaly were detected in four cases and structurally rearranged stemlines and sidelines in four cases. An apparently identical t(6;9)(q23;p21) was found in two tumors; in one case the translocation was part of the abnormal stemline and in the other case it was the sole anomaly in a single variant cell. A similar or identical t(6;9)(q21‐24;p13‐23) has recently been reported in three of 15 previously published cases of ACC. The three remaining tumors with abnormal stemlines all had rearrangements of chromosome 9, including t(1;9)(q21;p21‐22), der(9)i(9)(q10)inv(9)(q12q 13), and der(X)t(X;9)(p21;p22‐23), respectively. The latter case also had a t(17;18)(p12;q11.2) that was common to both abnormal clones present in this tumor. In addition to other abnormalities, the clone with der(X)t(X;9) also showed a del(6)(q13q21). In two cases fluorescence in situ hybridization (FISH) was used for further characterization of the marker chromosomes. A survey of the present findings together with previous results from 15 ACC clearly demonstrates that rearrangements of 6q21‐24 (deletions or translocations in 11 cases), 9p13‐23 (translocations in seven cases), and 17p12‐13 (translocations in three cases) are recurrent, and often primary, in ACC, and that the t(6;9)(q21‐24;p13‐23), found in five tumors, is a non‐random, primary aberration. Genes Chromosom Cancer 10:115–121 (1994). © 1994 Wiley‐Liss, Inc.
No TP53 mutations in neuroblastomas detected by PCR‐SSCP analysis
Authors: Castresana Javier S. , Bello M. Josefa , Rey Juan A. , Nebreda Paloma , Queizàn Antonio , Garcia‐Miguel Purificatión , Pestaña Angel 
Published: February 2007

AbstractWe have analysed 29 neuroblastomas for TP53 mutations in exons 5 to 8 by means of the polymerase chain reaction in combination with the single‐strand conformation polymorphism technique. We could not detect any mutation. These results indicate that, in contrast to the majority of tumors so far studied, TP53 mutations do not seem to be important for the development of neuroblastomas. Genes Chromosom Cancer 10:136–139 (1994). © 1994 Wiley‐Liss, Inc.
Loss of chromosome arm 8p loci in prostate cancer: Mapping by quantitative allelic imbalance
Authors: MacGrogan Donal , Levy Alina , Bostwick David , Wagner Michael , Wells Dan , Bookstein Robert 
Published: February 2007

AbstractA previous study of 18 primary or metastatic prostate cancers showed loss of genetic markers on chromosome 8; 10, or 16 in more than 50% of cases [Bergerheim USR et al. (1991) Genes Chromosom Cancer 3:215–220]. The small size and infiltrative nature of primary prostatic tumors have hindered efforts to assess allelic losses by traditional restriction fragment length polymorphism (RFLP)/Southern blotting methods. To improve the sensitivity and specificity of this analysis in early prostate cancer, we have amplified polymorphic microsatellite repeats by polymerase chain reaction (PCR), and have quantitated allelic imbalances with phosphor imaging technology. In this study, 63 primary prostate tumors and matched benign tissues obtained by radical prostatectomy were examined at 28 genetic loci on chromosome 8, all but five of which were located on the short arm. Twenty‐nine (46%) of the 63 cases showed loss of at least one locus. Multiple adjacent loci, usually including the LPL and MSR genes in 8p22, were lost in 28 cases. In 10 of these, losses were observed at all informative loci on the p arm. In another 15 tumors, losses were restricted to subregions of the p arm by loci retained either distally toward the p terminus or proximally at the 8p 12–8p21 border, or both. In three tumors, two discrete regions of loss were observed within 8p, separated by several retained loci. Allelic loss of 8p loci was associated with higher tumor grade. These data are complementary to previous reports of allelic deletions in colorectal, hepatocellular, and non‐small cell lung cancers and suggest the existence of one or more pleotropic tumor suppressor genes on 8p. Genes Chromosom Cancer 10:151–159 (1994). © 1994 Wiley‐Liss, Inc.
Detection of DNA amplification in 17 primary breast carcinomas with homogeneously staining regions by a modified comparative genomic hybridization technique
Authors: Muleris Martine , Almeida Anna , Gerbault‐Seureau Michèle , Malfoy Bernard , Dutrillaux Bernard 
Published: February 2007

AbstractA modified comparative genomic hybridization (mCGH) technique was applied to a series of 17 primary breast carcinomas in which cytogenetic study (CG) demonstrated the presence of homogeneously staining region(s), suggesting the occurrence of DNA amplification. mCGH demonstrated recurrent amplifications of the whole chromosome arms 8q (9 times) and I q (7 times) and of DNA loci in the following bands: 11 q 13 (6 times), 9p 13 and 17q21.1 (4 times), I q21.1 and 16p 11.2 (3 times), and 8q22, 8q24.1, 10q22, 15q26, 17q23, and 20q 13.3 (twice). Amplification of whole chromosome arms is likely to have resulted from unbalanced translocations or isochromosomes, whereas amplifications of smaller chromosomal segments probably arose through real DNA amplification processes. In all tumors but one, more than one amplified locus was detected. The fact that many chromosomal sites were involved suggests that the process of amplification is complex and that many genes are potential targets. Genes Chromosom Cancer 10:160–170 (1994). © 1994 Wiley‐Liss, Inc.
t(1;19) without detectable E2A rearrangements in two t(14; 18)‐positive lymphoma/leukemia cases
Authors: Wlodarska Iwona , Stul Michel , De Wolf‐Peeters Chris , Verhoef Gregor , Mecucci Cristina , Cassiman Jean‐Jacques , Van Den Berghe Herman 
Published: February 2007

AbstractTranslocation t(1;19)(q23;p13) plays a crucial role in the pathogenesis of childhood pre‐B cell leukemia and results in the formation of a fusion gene E2A‐PBXI that encodes a hybrid transcription factor with oncogenic potential. Here we describe two cases, one follicular lymphoma and one acute lymphoblastic leukemia/lymphoma, characterized by a complex karyotype including t(14;18), t(8;14), as well as t(1;19). Molecular studies in both cases failed to show rearrangements of the E2A gene. These results suggest that the t(1;19) found as a secondary chromosome change in t(14;18)‐positive lymphoma/leukemia might be a molecular variant of the t(1;19) that is typical of childhood pre‐B cell leukemia. Genes Chromosom Cancer 10:171–176 (1994). © 1994 Wiley‐Liss, Inc.
Chromosome abnormalities in hairy cell leukaemia variant
Authors: Brito‐Babapulle Vasantha , Matutes Estela , Oscier David , Mould Sarah , Catovsky Daniel 
Published: February 2007

AbstractWe describe chromosome abnormalities in 6 patients with hairy cell leukaemia (HCL) variant, a rare B‐cell disorder with clinical and laboratory features intermediate between HCL and B‐prolymphocytic leukaemia (B‐PLL). All but one had marked splenomegaly and a raised white blood cell count (median 40 × 109/l) with over 80% nucleolated hairy cells. These cells had a B‐cell immunophenotype distinct from that of typical HCL. All patients but one are alive with stable disease with a median follow‐up of 60 months. Numerical chromosome changes included loss of chromosomes 2, 3, 4, 6, 10, 19, 21, and X. Three cases had translocations involving the immunoglobulin gene regions: t(14;17)(q32;q11), t(14;22)(q32;q11), and t(2;8)(p11.12;q24). Immunocytochemistry demonstrated the presence of the MYC protein in cells from the case with t(2;8) but not in two others. Other structural abnormalities included t(3;10)(q27;q22) and t(3;12)(q27;q13) in the same patient, der(17)t(7;10;17) (p11;q27;q22), t(1;3)(q25;p21), t(8;21)(p12;q11), t(17;21)(p11;p11), del(6)(q15), del(7)(q34), and del(14)(q24). Genes Chromosom Cancer 10:197–202 (1994). © 1994 Wiley‐Liss, Inc.
Cytogenetic study of angiosarcoma of the breast
Authors: Gil‐Benso Rosario , López‐Ginés Concha , Soriano Pilar , Almenar Sergio , Vazquez Carlos , Llombart‐Bosch Antonio 
Published: February 2007

AbstractAngiosarcoma of the breast is quite rare, and the development of cutaneous angiosarcoma after segmental mastectomy and radiation therapy is even less common. A cytogenetic analysis of a mammary angiosarcoma arising in a breast after previous irradiation and segmental mastectomy for infiltrating ductal carcinoma revealed multiple clonal rearrangements involving chromosomes X, 1, 2, 3, 4, 5, 6, 7, 8, 9, 15, 17, 20, and 22. No cytogenetically analyzed angiosarcomas of the breast have been reported before. Genes Chromosom Cancer 10:210–212 (1994). © 1994 Wiley‐Liss, Inc.
Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors
Authors: Kallioniemi Olli‐P. , Kallioniemi Anne , Piper Jim , Isola Jorma , Waldman Fred M. , Gray Joe W. , Pinkel Dan 
Published: February 2007

AbstractComparative genomic hybridization (CGH) is a powerful new method for molecular cytogenetic analysis of cancer. In a single hybridization, CGH provides an overview of DNA sequence copy number changes (losses, deletions, gains, amplifications) in a tumor specimen and maps these changes on normal chromosomes. CGH is based on the in situ hybridization of differentially labeled total genomic tumor DNA and normal reference DNA to normal human metaphase chromosomes. After hybridization and fluorescent staining of the bound DNAs, copy number variations among the different sequences in the tumor DNA are detected by measuring the tumor/normal fluorescence intensity ratio for each locus in the target metaphase chromosomes. CGH is in particular useful for analysis of DNA sequence copy number changes in common solid tumors where high‐quality metaphase preparations are often difficult to make, and where complex karyotypes with numerous markers, double minutes, and homogeneously stained chromosomal regions are common. CGH only detects changes that are present in a substantial proportion of tumor cells (i.e., clonal aberrations). It does not reveal translocations, inversions, and other aberrations that do not change copy number. At present, CGH is a research tool that complements previous methods for genetic analysis. CGH will advance our understanding of the genetic progression of cancer and highlight important genomic regions for further study. Direct clinical applications of CGH are possible, but will require further development and validation of the technique. We describe here our recent optimized procedures for CGH, including DNA labeling, hybridization, fluorescence microscopy, digital image analysis, data interpretation, and quality control, emphasizing those steps that are most critical. We will also assess sensitivity and resolution limits of CGH as well as discuss possible future technical improvements. Genes Chromosom Cancer 10:231–243 (1994). © 1994 Wiley‐Liss, Inc.
TP53 mutations are frequent in malignant NFI tumors
Authors: Legius Eric , Dierick Herman , Wu Rina , Hall Bryan K. , Marynen Peter , Cassiman Jean‐Jacques , Glover Thomas W. 
Published: February 2007

AbstractNeurofibromatosis type I (NFI) is a common autosomal dominant disorder with an increased risk for developing benign and malignant tumors. The NFI gene has been cloned and maps to 17qII.2, and the gene product acts as a tumor suppressor gene. Here we analyzed the role of mutations in TP53 in four malignant NFI tumors. Mutations were found in 3 out of 4 tumors. One of these mutations is a common missense mutation in codon 278 in one of the previously identified hot spots for mutations. The two other are hitherto unreported mutations, including a splice mutation of exon 3 and a nonsense mutation in exon 4. In addition, these four tumors also showed loss of heterozygosity (LOH) for markers on chromosome 17 in the region of TP53. Malignant NFI tumors are initiated by a somatic inactivation of the second NFI allele. Tumor progression, however, occurs by accumulation of additional genetic abnormalities, such as homozygous inactivation of TP53, as demonstrated in this paper. Genes Chromosom Cancer 10:250–255 (1994). © 1994 Wiley‐Liss, Inc.
Submicroscopic deletions of 3p sequences in pleomorphic adenomas with t(3;8)(p21;q12)
Authors: Sahlin Pelle , Mark Joachim , Stenman Göran 
Published: February 2007

AbstractA subgroup of benign pleomorphic adenomas of the salivary glands is characterized by translocations, or on rare occasions deletions, with breakpoints at 3p2I. We have applied restriction fragment length polymorphism (RFLP) analysis to assess the frequency of allelic losses at four different loci located within 3p2I p25 in 35 pleomorphic adenomas, 18 of which were also karyotyped. Parallel analysis of constitutional and tumor DNAs in informative tumors revealed that all patients retained heterozygosity in their tumor DNA at the D3S2 and RAFI loci. Among the 29 tumors informative for THRB three showed loss of heterozygosity (LOH). All three tumors had a t(3;8)(p2I;qI2). Of the 23 tumors informative for D3FI5S2, one showed LOH. This tumor also had a t(3;8)(p2I;qI2). To further map the deletions in relation to the 3p2I translocation breakpoint, we also sublocalized the THRB locus. Using in situ hybridization we assigned the gene to 3p24.I‐.3. The fact that none of the tumors with loss of 3p alleles showed cytogenetic evidence of deletions indicates that the losses are submicroscopic, probably interstitial, and in most cases distal to the 3p2I breakpoint. This was confirmed in one case with loss of a THRB allele where both proximal (D3FI5S2) and distal (RAFI) markers retained heterozygosity. Our results suggest that deletion of 3p sequences might be of progressional importance in a subset of pleomorphic adenomas with t(3;8)(p2I;qI2). Genes Chromosom Cancer 10:256–261 (1994). © 1994 Wiley‐Liss, Inc.
Simple numeric abnormalities as primary karyotype changes in ovarian carcinoma
Authors: Thompson Floyd H. , Liu Yun , Emerson Julia , Weinstein Ronald , Makar Rosemary , Trent Jeffrey M. , Taetle Raymond , Alberts David S. 
Published: February 2007

AbstractSimple near‐diploid karyotypes in ovarian cancer may indicate either primary alterations related to tumor pathogenesis or abnormalities associated with early tumor progression. We have identified a series of 13 epithelial ovarian tumors with very simple karyotypes. Specifically, these karyotypes were near‐diploid and displayed numeric abnormalities alone or combined with one or two structural alterations. The present series includes samples from 10 patients with newly diagnosed adenocarcinomas and 3 patients having borderline malignancies. Recurrent numeric abnormalities were identified and included 9/13 cases (69%) with + 12, eight cases (62%) with + 8, five cases (38%) with + 7, three cases (23%) each with + 3 or + 5, and two cases (15%) with ‐X, Five cases in this series displayed certain numeric abnormalities (+ 12, + 7, and ‐X) as the sole anomalies, thereby qualifying as primary karyotype changes. Of the 6 cases with structural abnormalities, 4 involved chromosome 19, 2 involved chromosome I, and the remaining abnormalities or translocation partners involved other chromosomes. These findings indicate that some numeric abnormalities are primary karyotype alterations in patients with malignant epithelial ovarian tumors and that chromosome 19 may be preferentially involved in structural rearrangements during early tumor progression. Genes Chromosom Cancer 10:262–266 (1994). © 1994 Wiley‐Liss, Inc.
Putative “MDR enhancer” is located on human chromosome 20 and not linked to the MDRI gene on chromosome 7
Authors: Germann Ursula A. , Schoenlein Patricia V. , Zimonjic Drazen B. , Popescu Nicholas C. , Pastan Ira , Gottesman Michael M. 
Published: February 2007

AbstractThe physiologic expression of the human multidrug resistance MDRI gene product P‐glycoprotein is controlled in a tissue‐ and cell‐specific manner, but the regulatory mechanisms have not been characterized in great detail. Studies by Kohno et al. [(1990) J Biol Chem 265:19690–19696] suggested that a tissue‐specific enhancer element located approximately 10 kb upstream from the major MDRI transcription start site may act to increase the levels of transcription in cultured adrenal and kidney cells. Using this putative “MDR enhancer” as a probe, we isolated a 14 kb DNA fragment from a genomic DNA library prepared from human fetal liver. The restriction map and partial nucleotide sequence of this DNA fragment were consistent with the previously described data obtained for a similar piece of genomic DNA derived from human placenta by Kohno et al. (ibid.). Pulsed‐field gel electrophoresis of large genomic DNA fragments, however, showed that the DNA sequences, including the putative “MDR enhancer,” were not linked to the MDRI gene. Fluorescence in situ hybridization analysis revealed that this enhancer‐like element is located on chromosome 20 at band q13.1 and is, therefore, distinct from the MDR locus on chromosome 7, band q21.1. Thus, this putative regulatory element does not modulate the tissue specificity of expression of the MDRI gene in vivo, but may play a role in the regulation of expression of another, so far unknown gene. Genes Chromosom Cancer 10:267–274 (1994). © 1994 Wiley‐Liss, Inc.
Cytogenetic analysis of a choroid plexus papilloma
Authors: Punnett Hope H. , Tomczak Ewa Z. , De Chadarevian Jean‐Pierre , Kanev Paul M. 
Published: February 2007

AbstractWe report the cytogenetic analysis of a choroid plexus papilloma, a benign tumor, with a modal number of 56 chromosomes. In our review of the few reported karyotypes of choroid plexus tumors, we found no predictive relationship between the karyotype and the pathologic diagnosis or outcome. Genes Chromosom Cancer 10:282–285 (1994). © 1994 Wiley‐Liss, Inc.
Analysis of mutations in the SCH gene in schwannomas
Authors: Bijlsma Emilia K. , Merel Philippe , Bosch D. Andries , Westerveld Andries , Delattre Olivier , Thomas Gilles , Hulsebos Theo J. M. 
Published: February 2007

AbstractSchwannomas are benign tumors of cranial, spinal, and other nerve sheaths that develop sporadically or are inherited as part of neurofibromatosis type 2 (NF2). The NF2 gene (SCH) on chromosome 22 has recently been identified and shown to be inactivated by mutation and allele loss in some schwannomas. However, only limited regions in the SCH coding region were examined for mutations. We have extended these studies by screening virtually all coding sequences of the SCH gene (95% coverage) and adjacent splice site sequences for the presence of mutations in 48 schwannomas. All tumors (34 vestibular schwannomas and 14 schwannomas of other locations) were additionally characterized for allele loss on chromosome 22. By PCR‐DGGE screening of the 16 known exons of the SCH gene, 22 mutations were found. Most of these give rise to a premature stop codon and are expected to result in the synthesis of a truncated gene product (schwannomin). Although there was no apparent hotspot for mutations, 16 of the 22 mutations occurred in the first eight exons or adjacent splice site sequences of the SCH gene. In several vestibular as well as other schwannomas loss of one SCH allele and mutational inactivation of the second allele were identified in the same tumor. Our data indicate that the SCH gene is implicated in the development of schwannomas of all locations in the nervous system.