Actinomycin D. from one chromosome and then insert into another. The excision of Ac may cause a break in the chromosome, and this is what generated the breakage-fusion-bridge cycles that McClintock observed. Ds is a defective transpon that contains a deletion in its transposase locus. Therefore the Ds transposon can move from chromosome to chromosome only if Ac is also in the nucleus to supply its transposase. Ac and Ds were originally classified as mutator genes, since they would sometimes insert into structural genes and modify their functioning. See Appendix C, 1950, McClintock; 1984, Pohlman et al.; Dotted, genomic instability, mutator gene, terminal inverted repeats (TIRs), transposon tagging.. active center in the case of enzymes, a flexible portion of the protein that binds to the substrate and converts it into the reaction product. In the case of carrier and receptor proteins, the active center is the portion of the molecule that interacts with the specific target compounds.. active ...
In this study, we developed a new strategy to detect DNA palindromes by coupling fast annealing genomic DNA treated by S1 nuclease (GAPF) with high-throughput sequencing (GAP-Seq) and recovery of novel palindrome junctions. We chose to use the MCF-7 breast cancer cell line for this initial proof-of-principle study because it has been extensively analyzed at the genomic level, allowing us to determine if our approach could generate novel data. In fact, none of our palindrome junctions had been identified by either sequence analysis or novel breakpoint analyses of MCF-7 [22, 25, 26]. This difference may be a result of either or both of two constraints presented by the characteristics of palindromes: 1) the breakpoint analysis was done from BAC clones, where palindromes are not stable during E.coli propagation, and 2) most of novel breakpoints identified here are located in or near to repeat-masked regions and would not be recovered by mapping of high-throughput sequencing data without knowing more ...
Read "Breakpoint mapping positions the callipyge gene within a 450-kilobase chromosome segment containing the DLK1 and GTL2 genes, Mammalian Genome" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Chromosomal breakage syndromes are a group of genetic disorders that are characterised by a defect in DNA repair mechanisms or genomic instability, and patients with these disorders show increased predisposition to cancer in addition to distinct clinical presentations. VCGS offers testing for Ataxia talengiectasia and Bloom syndrome.. ...
Genomes undergo large structural changes that alter their organisation. The chromosomal regions affected by these rearrangements are called breakpoints, while those which have not been rearranged are called synteny blocks. We developed a method to precisely delimit rearrangement breakpoints on a genome by comparison with the genome of a related species. Contrary to current methods which search for synteny blocks and simply return what remains in the genome as breakpoints, we propose to go further and to investigate the breakpoints themselves in order to refine them. Given some reliable and non overlapping synteny blocks, the core of the method consists in refining the regions that are not contained in them. By aligning each breakpoint sequence against its specific orthologous sequences in the other species, we can look for weak similarities inside the breakpoint, thus extending the synteny blocks and narrowing the breakpoints. The identification of the narrowed breakpoints relies on a segmentation
We integrated WGS data from over 2600 tumours spanning more than 30 cancer types," says Isidro Cortés-Ciriano, Group Leader at EMBL-EBI and a former postdoctoral researcher at Harvard Medical School.. "From this we discovered that chromothripsis events and other types of complex genome rearrangements are pervasive across human cancers, with frequencies greater than 50% of tumours in some cancer types.". Using WGS datasets gave the researchers an enhanced view of chromothripsis events in the cancer genome. Previous studies looking at the role of chromothripsis in cancer and congenital diseases often used low-resolution array-based technologies.. Here the researchers were able to show that chromothripsis events are much more prevalent in cancer than previously estimated. They also characterised the patterns of massive genome alterations across cancer types, and studied the DNA repair mechanisms involved in their generation.. "This study is yet another demonstration of the power of large-scale ...
Bloom syndrome is an archetypal "chromosome breakage syndrome." A recessively inherited mutation in the BLM gene leads to an inordinate frequency of chromosomal breaks and rearrangements, possibly via aberrant repair of breaks in double stranded DNA.7-10 The BLM mutation in turn gives rise throughout life to a high number of acquired somatic mutations. Genomic instability can affect virtually all genetic loci, cell types, and tissues in an individual with Bloom syndrome, so it is not surprising that manifold ocular abnormalities have been observed. As described here, a single patient in a short span of time displayed multiple independent retinal pathologies. In addition to early onset retinal drusen, which may be considered characteristic for the syndrome, he developed two different complications secondary to systemic diseases: diabetic retinopathy and leukaemic retinopathy.. Perhaps the most common ocular finding in Bloom syndrome is the presence of retinal drusen at an early age (fig 1); noted ...
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations ...
CL induces DNA modification and irreversible/reversible DNA breakage at gyrase cleavage sites. (A) Probing CL modification and cleavage reversibility. The S fra
Chromothripsis is the phenomenon by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases. It occurs through one massive genomic rearrangement during a single catastrophic event in the cells history. It is believed that for the cell to be able to withstand such a destructive event, the occurrence of such an event must be the upper limit of what a cell can tolerate and survive. The chromothripsis phenomenon opposes the conventional theory that cancer is the gradual acquisition of genomic rearrangements and somatic mutations over time. The simplest model as to how these rearrangements occur is through the simultaneous fragmentation of distinct chromosomal regions (breakpoints show a non-random distribution) and then subsequent imperfect reassembly by DNA repair pathways or aberrant DNA replication mechanisms. Chromothripsis ...
15 NCCN Guidelines for Patients ® : Follicular Lymphoma, Grade 1-2, 2017 2 Treatment planning 16 Medical history 17 Physical exam 17 Blood tests 19 Imaging tests 20 Bone marrow exam 21 Heart tests 21 Fertility and pregnancy 22 Review ...
TY - JOUR. T1 - Effects of roll gap, kernel shape, and moisture on wheat breakage modeled using the double normalized kumaraswamy breakage function. AU - Fuh, Kenneth F.. AU - Coate, Joanna M.. AU - Campbell, Grant M.. N1 - No full text in Eprints. HN 21/11/2017. PY - 2014/1. Y1 - 2014/1. N2 - Flour milling separates endosperm from bran through repeated roller milling and sifting, in which the size distribution of particles produced by the initial breakage of the wheat kernels critically affects the process. The double normalized Kumaraswamy breakage function (DNKBF), previously developed to describe wheat breakage during roller milling, was extended to refine the modeling of the effect of roll gap on breakage. The DNKBF describes two populations of particles arising from roller milling of wheat, a narrow peak of mid-sized particles and a wider distribution of both small and very large particles. A new dataset was obtained from milling a set of wheat samples bred to give a range of shapes by ...
Background Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients. Methods We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons. Results We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent in six patients, and were of unknown inheritance in eight patients. The deletion was absent in a series of 4737 control persons (P=1.1x10?7). We found considerable variability in the level of phenotypic expression of the ...
A streams manager monitors data tuples processed by a streaming application represented by an operator graph. The streams manager includes a tuple breakpoint mechanism that allows defining a tuple breakpoint that fires when a tuple has been in the operator graph too long. What constitutes too long can be defined in a number of different ways, including a time limit, a processing limit for multiple operators, and a processing limit for an individual operator. When the tuple breakpoint fires, one or more operators in the operator graph are halted according to specified halt criteria. Information corresponding to the breakpoint that fired is then displayed. The tuple breakpoint mechanism thus provides a way to debug a streaming application that may have data tuples that stay in the operator graph too long.
genetic material that is out of its normal place, as when deoxyribonucleic acid (DNA) from one chromosome breaks off and gets attached to a different chromosome. See also |b>chromosome|/b>, |b>deoxyribonucleic acid|/b>, |b>mutation|/b>.
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Find all books from A.B. Harris - Breakpoint: Stress and the Crisis of Modern Living. At find-more-books.com you can find used, antique and new books, COMPARE results and immediately PURCHASE your selection at the best price. 0855000937
This chromosome fragility involves the generation of chromosome/chromatid gaps or breaks, or the high frequency loss of one or both copies of the affected gene. Other repeat diseases, like Fragile X Syndrome (FXS) have been shown to have chromosome fragility. This has not been previously studied in FA. This research shows that the region of chromosome 9 that contains the FXN locus is intrinsically prone to breakage in vivo even in control cells. However, like FXS alleles, FRDA alleles show significantly elevated levels of chromosome abnormalities in the presence of an ATM inhibitor, consistent with the formation of a fragile site.. Read more: Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. ...
Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the NBN gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence. Here we present an incidental finding. Skin fibroblasts, derived from a 9 year old NBS patient, showed a mosaic of normal diploid cells (46,XY) and those with a complex, unbalanced translocation. The aberrant karyotype was analysed by G-banding, comparative genomic hybridization, and whole chromosome painting. The exact breakpoints of the derivative chromosome were mapped by whole genome sequencing: 45,XY,der(6)(6pter → 6q11.1::13q11 → 13q21.33::20q11.22 → 20qter),-13.
Lim, G., J. Karaskova, et al. (2005). "An integrated mBAND and submegabase resolution tiling set (SMRT) CGH array analysis of focal amplification, microdeletions, and ladder structures consistent with breakage-fusion-bridge cycle events in osteosarcoma." Genes Chromosomes Cancer 42(4): 392-403. Coe, B. P., L. J. Henderson, et al. (2005). "High-resolution chromosome arm 5p array CGH analysis of small cell lung carcinoma cell lines." Genes Chromosomes Cancer 42(3): 308-13. Garnis, C., B. Coe, et al. (2004). "Construction and optimization of chromosome arm-specific comparative genomic hybridization arrays for identifying genetic alterations in preinvasive lung cancers." Chest 125(5 Suppl): 104S-5S. Garnis, C., B. P. Coe, et al. (2004). "Overexpression of LRP12, a gene contained within an 8q22 amplicon identified by high-resolution array CGH analysis of oral squamous cell carcinomas." Oncogene 23(14): 2582-6. de Leeuw, R. J., J. J. Davies, et al. (2004). "Comprehensive whole genome array CGH ...
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Diagnosis Code C82.2 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
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Free, official coding info for 2018 ICD-10-CM C82.2 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
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Recent advances in comparative genomics have considerably improved our knowledge of the evolution of mammalian karyotype architecture. One of the breakthroughs was the preferential localization of evolutionary breakpoints in regions enriched in repetitive sequences (segmental duplications, telomeres and centromeres). In this context, we investigated the contribution of ribosomal genes to genome reshuffling since they are generally located in pericentromeric or subtelomeric regions, and form repeat clusters on different chromosomes. The target model was the genus Mus which exhibits a high rate of karyotypic change, a large fraction of which involves centromeres. The chromosomal distribution of rDNA clusters was determined by in situ hybridization of mouse probes in 19 species. Using a molecular-based reference tree, the phylogenetic distribution of clusters within the genus was reconstructed, and the temporal association between rDNA clusters, breakpoints and centromeres was tested by maximum likelihood
Genome instability, associated with chromosome breakage syndromes and most human cancers, is still poorly understood. In the yeast Saccharomyces cerevisiae, numerous genes with roles in the preservation of genome integrity have been identified. DNA-damage-checkpoint-deficient yeast cells that lack Sgs1, a RecQ-like DNA helicase related to the human Blooms-syndrome-associated helicase BLM, show an increased rate of genome instability, and we have previously shown that they accumulate recurring chromosomal translocations between three similar genes, CAN1, LYP1 and ALP1. Here, the chromosomal location, copy number and sequence similarity of the translocation targets ALP1 and LYP1 were altered to gain insight into the formation of complex translocations. Among 844 clones with chromosomal rearrangements, 93 with various types of simple and complex translocations involving CAN1, LYP1 and ALP1 were identified. Breakpoint sequencing and mapping showed that the formation of complex translocation types is
in Cancer Genetics & Cytogenetics (2006), 166(1), 1-11. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients ... [more ▼]. Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Francais de Cytogenetique Hematologique collected a series of 107 patients with various hematologic disorders and acquired structural abnormalities of the long arm of chromosome 21. The abnormalities were subclassified into 10 groups, according to the location of the 21q breakpoint and the type of abnormality. Band 21q22 was implicated in 72 patients (excluding duplications, triplications, and amplifications). The involvement of the RUNX1 gene was confirmed in 10 novel translocations, but the gene partners were not identified. Eleven novel translocations rearranging band 21q22 with hands 1q25, ...
Microdeletions and microduplications in the genome are caused by chromosome misalignment between blocks of region‐specific low copy repeats and result in genomic disorders
Understanding the genetic component of scoliosis in humans has relied on the assumption that spine development is conserved across species. Since evolutionary conserved genes tend to lie within synteny blocks (HSBs) and genes which are not conserved lie within evolutionary breakpoint regions (EBRs), HSB analysis may be used to determine if spine development is conserved across species. We hypothesized that vertebral patterning genes are conserved in amniotes and their location is within stable or
...MEDFORD/SOMERVILLE Mass. In the past ten years researchers in genom...In a Tufts University study published in the Aug. 3 journal Molecular...Catherine Freudenreich associate professor of biology at the School o... It is an area that has a tumor suppressor gene a gene whose absence ...,Biologists,at,Tufts,University,discover,1,reason,why,chromosomes,break,,often,leading,to,cancer,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
In a paper in eLife published in May 2105 Han Tan and colleagues report that when Arabidopsis with weakened centromeres is crossed to the wild type, i.e. a plant with normal centromeres, the resulting embryos undergo chromothripsis, the cut-and-reassembly process leading to highly rearranged chromosomes. Because weakened centromeres can occur naturally, this process may contribute to the evolution of new chromosomes types. Additionally, this process can be manipulated genetically to provide a high frequency of haploids, a genetic type that accelerates plant breeding. Last, this provides an experimentally tractable system to study complex rearrangements associated with human diseases. This is a Simon Chan legacy paper ...
If you are losing hair, the first thing you need to do is to determine whether your hair is breaking or shedding. To do this, read this post, Understanding the difference between hair shedding and breakage.. What is hair breakage? A little hair breakage is inevitable but at what level of breakage would you consider it to be an issue? To classify levels of breakage, I think that it would depend on whether it is a wash day or not. Im making the assumption that you are manipulating your hair as carefully as possible. If you are not, that could be your reason for breakage.. Disclaimer: my classification for breakage is not based on any text. Its just from my personal experience.. Mild breakage:. ...
Given the unusual and distinctive combination of impaired cognitive function, hyperactivity, and severe obesity and the similarities in phenotype to a previously reported patient with a mutant TrkB and the strong evidence for loss of expression of one allele of BDNF, it would seem highly plausible that the clinical phenotype in this patient has resulted from a reduction in BDNF. However, the patient does harbor a chromosomal inversion and not a simple loss of function mutation, and it is possible that some aspects of her phenotype could relate to positional effects at other genes in the region. However, none of the rodent models or human mutations disrupting other genes in this region have been associated with a comparable neurobehavioral and obesity phenotype. Nonetheless, we cannot exclude the possibility of disruption of other genes of unknown function. As yet, we have not fully characterized the distal breakpoint and thus cannot exclude the possibility that a centrally expressed gene is ...
If you have a question about this talk, please contact Dr Ireena Dutta.. Hutchison/MRC Research Centre Seminar. Abstract not available. This talk is part of the Cambridge Oncology Seminar Series series.. ...
Scattergram #2 -- Correlation of TMP/SMX MIC and zone diameters for S. pneumoniae. Horizontal and vertical lines represent MIC and zone diameter breakpoints. In this case, the isolates form a continuum, with the breakpoint for resistant and susceptible not being obvious. In this case one can not predict how the isolates which fall into the intermediate zone will behave in vivo. The breakpoints are set to maximize the predictive value of the test while minimizing errors (ie. it is preferable to call an isolate intermediate, than to incorrectly call it sensitive or resistant ...
19/02/20: Katholieke Universiteit Nijmegen: Profil acad mique, opinions et t moignages d tudiants internationaux... Ponctuations: tudes: 4.0/5, Langues trang res: 4.5/5, Vie tudiante: 4.7/5, Logement: 3.9/5, Frais: 3.3/5, valuation globale: 4.6/5. Classements, Admissions, Programmes...
Reporting in Nature Communications, the research team suggests that the cell-based system of hormone replacement, because of its ability to match dose with the bodys needs, is an attractive alternative to drugs and is consistent with current guidelines in the U.S. and Europe recommending the lowest possible doses of hormone replacement therapy.. Safe hormone replacement will likely become increasingly important as the population of aging women grows, said Opara. Whether the loss of ovarian function is due to surgical removal, chemotherapy or menopause, the effects can range from hot flashes and vaginal dryness to infertility and increased risk of osteoporosis and heart disease.. To engineer the bioartificial ovary, the research team isolated the two types of cells found in ovaries (theca and granulosa) from rats. A thin membrane was used as a capsule to contain the cells and then implanted in rats that had their ovaries removed. These rats were compared with animals with normal ovarian ...
The human and chimpanzee genomes are distinguishable in terms of ten gross karyotypic differences including nine pericentric inversions and a chromosomal fusion. Seven of these large pericentric inversions are chimpanzee-specific whereas two of them, involving human chromosomes 1 and 18, were fixed in the human lineage after the divergence of humans and chimpanzees. We have performed detailed molecular and computational characterization of the breakpoint regions of the human-specific inversion of chromosome 1. FISH analysis and sequence comparisons together revealed that the pericentromeric region of HSA 1 contains numerous segmental duplications that display a high degree of sequence similarity between both chromosomal arms. Detailed analysis of these regions has allowed us to refine the p-arm breakpoint region to a 154.2 kb interval at 1p11.2 and the q-arm breakpoint region to a 562.6 kb interval at 1q21.1. Both breakpoint regions contain human-specific segmental duplications arranged in ...
Figure 1. Identification and characterization of a novel KRAS rearrangement in metastatic prostate cancer. A, left, amplification breakpoint analysis and ConSig scoring (yellow line) of 3′ amplified genes from a panel of advanced prostate cancer cell lines nominating KRAS as a fusion gene candidate with 3′ amplification (red columns) in the DU145 prostate cancer cell line. Right, matching the amplification level of 5′ amplified genes in DU145 cells nominates SOX5, C14orf166, and UBE2L3 as 5′ fusion partner candidates for KRAS. Relative quantification of DNA copy number data from the genomic regions 1 Mb apart from the candidate fusion genes is shown. The x-axis indicates the physical position of the genomic aberrations; fusion partners are indicated by gray arrows. B, sequencing results from RT-PCR, revealing fusion of UBE2L3 with KRAS in DU145. Structures for the UBE2L3 and KRAS genes have their basis in the Genbank reference sequences. Numbers above the exons (boxes) indicate the last ...
The biopsy shows classic features of a follicular lymphoma. The nodular germinal center-like architecture and cytomorphology along with the corroborative phenotypic profile is typical for this form of B cell neoplasia. In this case, the neoplastic cells expressed CD10, Bcl-6, and Bcl-2. In this regard, the differential diagnosis is largely between a grade II nodal follicular
1. Stephens PJ, Greenman CD, Fu B et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011; 144 (1): 27-40. doi: 10.1016/j.cell.2010.11.055.. 2. Kloosterman WP, Koster J, Molenaar JJ. Prevalence and clinical implications of chromothripsis in cancer genomes. Curr Opin Oncol 2014; 26 (1): 64-72. doi: 10.1097/CCO.0000000000000038.. 3. Kloosterman WP, Guryev V, van Roosmalen M et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet 2011; 20 (10): 1916-1924. doi: 10.1093/hmg/ ddr073.. 4. de Pagter MS, van Roosmalen MJ, Baas AF et al. Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring. Am J Hum Genet 2015; 96 (4): 651-656. doi: 10.1016/j.ajhg.2015.02.005.. 5. Rausch T, Jones DT, Zapatka M et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 ...
The success of a RH mapping project depends on the level of radiation-induced breakage of chromosomes and the ability to recover subchromosome fragments. An additional consideration is the ability to detect chromosome breaks with available markers. We have material of an alloplasmic durum line with the A and B genome chromosomes where a portion of the 1D chromosome carrying scsae from hexaploid wheat has been introgressed. Radiation induces breakage over the entire genome of this line and except for breakages in the 1D portion, all other breakages are masked due to addition of complementary A and B genome chromosome after crossing the irradiated RH0 plants with LDN16. Using DNA-based markers for chromosome 1D, we have successfully identified the critical breakages (Figures 5 and 6).. In our study, we used 39 DNA-based markers in analyzing radiation-induced breakages in a mapping population of 87 individuals. Twenty-seven of these markers identified breakages in chromosome 1D (Figure 5) and the ...
Researchers from Indiana University-Purdue University Indianapolis (U.S.A) and Umea° University (Sweden) report in a study published in the February 15, 2011, issue of PLoS Biology that a method by which cells repair breaks in their DNA, known as Break-induced Replication (BIR), is up to 2,800 times more likely to cause genetic mutation than normal cell repair.. Accurate transmission of genetic information requires the precise replication of DNA. Errors in DNA replication are common and nature has developed several cellular mechanisms for repairing these mistakes. Mutations, which can be deleterious (development of cancerous cells), or beneficial (evolutionary adaption), arise from uncorrected errors. When one or many cells repair themselves using the efficient BIR method, accuracy is lost.. "When BIR occurs, instead of using a "band aid" to repair a chromosomal break, the broken piece invades another chromosome and initiates replication which happens at the wrong place and at the wrong time ...
Use the wwhen magnitude as well as voxel intensity with a statistical relaxation method for brain segmentation 29. DDEF1 (development and differentiation enhancing factor1) and NBS1 (Nijmegen breakage syndrome 1), located on chromosome 8 close to c-Myc, are more frequently overexpressed than c-myc in association propranool 8q gain, and these genes rather than c-Myc may be responsible for the poor prognosis.
There is now sufficient scientific data about the biological effects of EMF, and in particular about radiofrequency (RF) radiation, to argue for adoption of precautionary measures. We can state unequivocally that EMF can cause single and double strand DNA breakage at exposure levels that are considered safe under the FCC guidelines in the USA. As I shall illustrate below, there are also epidemiology studies that show an increased risk of cancers associated with exposure to RF. Since we know that an accumulation of changes or mutations in DNA is associated with cancer, there is good reason to believe that the elevated rates of cancers among persons living near radio towers are probably linked to DNA damage caused by EMF. Because of the nature of EMF exposure and the length of time it takes for most cancers to develop, one cannot expect conclusive proof such as the link between helicobacter pylori and gastric ulcer. (That link was recently demonstrated by the Australian doctor who proved a link ...
Fregoso,M. Laine,J.P. Aguilar-Fuentes,J. Moquet,V. Reynaud,E. Coin,F. Egly,J.M. Zurita,M. 2007. DNA repair and transcriptional deficiencies caused by mutations in the Drosophila p52 subunit of TFIIH generate developmental defects and chromosome fragility Molecular and Cellular Biology, 27, 3640-3650 ...
Inherited chromosomal translocations play a key role in evolution by rearranging genetic material, which in rare cases can be beneficial. They can also be deleterious - translocations are often associated with cancer. The researchers find that the chromosome breaks linked to cancer are more likely to occur in proximity to the evolutionary breakage hotspots. The authors also conclude, based on computer-generated reconstructions of the genomes of long-extinct mammals, that there was a sharp increase in the rate of chromosomal evolution among mammals following the demise of the dinosaurs some 65 million years ago ...