Showing papers in "Cancer Genetics and Cytogenetics in 2012"

TL;DR: The discovery of two separate molecular subtypes within the glioma classification that appear to correlate with biological etiology, prognosis, and response to therapy suggests that molecular genetic tests are and will be useful, beyond classical histology, for the clinical classification of gliomas.

TL;DR: This review summarizes the known germline and somatic mutations leading to the development of PCC and PGL, as well as biochemical profiling for PCCs/PGLs and screening of mutation carriers.

TL;DR: The molecular inversion probe (MIP) assay technology was originally developed for single nucleotide polymorphism (SNP) genotyping, but has subsequently been used for identifying other types of genetic variation including focal insertions and deletions, larger copy number alterations, loss of heterozygosity (LOH), and most recently, for somatic mutation detection.

TL;DR: Improved knowledge of the downstream mediators of BMP4 effects in cancer cells may allow dissection of the different B MP4-induced phenotypes and thereby generation of specific targeted therapies.

TL;DR: It was determined that miR-26a expression is clearly down-regulated in human lung cancer tissues relative to normal tissues and could potentially be used for the treatment of lung cancer.

TL;DR: The current understanding of the morphology, epidemiology and genetics of gestational trophoblastic disease that followed the milestone findings by Kajii and Ohama is described.

TL;DR: A workshop was convened on November 2, 2010, at the National Institutes of Health, bringing together clinicians and scientists, as well as individuals from families with LFS, to review the state of the science, address clinical management issues, stimulate collaborative research, and engage the LFS family community.

TL;DR: These findings support and build upon the high level of cytogenetic complexity, through the identification of shared regions of microaberration and functional analysis of possible orthologous OS-associated genes to pinpoint the cellular processes most commonly affected by aberration in human and canine OS.

TL;DR: The present study uses cytogenetic and molecular techniques to examine the stability of devil facial tumor (DFT) cell lines across time and space, and describes the evolution of DFTs in the field and speculate on the possible impacts on the disease.

TL;DR: Technical advancements will rapidly reveal new alterations in the more rare sarcoma subtypes for which the molecular background has remained enigmatic, and using new technologies, as well as refinement of existing technologies for decalcified paraffin-embedded tissue, may bring to light more specific genetic aberrations in bone tumors that can be applied in molecular diagnostics in the near future.

TL;DR: In mCRC patients with wild-type KRAS/BRAF, miRNA profiling can efficiently predict the benefits of anti-EGFRmAb treatment, and larger series of patients are necessary for application of these miRNAs as predictive/prognostic markers.

TL;DR: Molecular analysis of six samples from two patients with multicentric hepatic EHE confirmed an identical WWTR1-CAMTA1 fusion transcript product from different nodules in each patient and confirmed that multifocal EHE are monoclonal and thus represent metastatic implants of the same neoplastic clone rather than a "field-effect" or synchronous occurrence of multiple neoplastics clones.

TL;DR: A crucial impact of deregulated miRNAs with consecutive changes in gene expression in osteosarcomas is indicated, which strongly suggests pathogenetic and potentially therapeutic implications.

TL;DR: This work describes a new immortalized cell line, UOK268, derived from a patient's primary HLRCC-associated kidney cancer, which represents the first primary renal cell line to model TCA cycle gene loss and provides a unique in vitro preclinical model for studying the bioenergetics of the Warburg effect in human cancer.

TL;DR: Whereas no overall differences in EFS or OS were observed, there was a trend toward improved OS in BRCA2 carriers with advanced-stage disease, which may reflect important differences between B RCA genotypes and should be validated in larger studies.

TL;DR: A single nucleotide polymorphism within the miR-502 mRNA seed region of the 3' UTR of SET8 in Chinese epithelial ovarian cancer patients was analyzed to help identify subgroups of populations that are at high risk for EOC.

TL;DR: Findings suggest that both the deep soft tissue and pleuropulmonary lesions were derived from the same abnormal clone and are genetically related to uterine leiomyomata.

TL;DR: In this review, the findings of studies that have examined the molecular basis of ACTs are described, the relationship between genetic analysis and transcriptome analysis is highlighted, and the role of abnormal cell growth and steroid hormone secretion is attempted.

TL;DR: Examining for the first time the characteristics of hereditary breast cancer in Puerto Rico and assessing the accuracy of existing genetic risk assessment tools in that population finds three recurrent mutations account for over 70% of all the BRCA mutations observed in this study population.

TL;DR: The present finding bolsters the correlation between MD and sarcomas, and provides a model not only to examine the cellular origins but also to identify mechanisms and signal transduction pathways triggering development of RMS.

TL;DR: The data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways.

TL;DR: Both known and novel CNAs using MIP technology for the first time in FFPE samples from patients with ES detected by microarray correlate with outcome and may be useful for risk stratification in future clinical trials.

TL;DR: It is concluded that a significant relationship exists between the miRNA-binding site polymorphism of the IL-16 gene and CRC risk in the Iranian population.

TL;DR: The results indicate that the UGT1A1*28 allele is a risk factor for colorectal cancer in the Macedonian male population, whereas no significant risk was detected among women.

TL;DR: The increased lung cancer risk found in -163C carriers, independent of smoking status, and in -2467delT male smokers, suggests that these variants could influence lung cancer development through different mechanisms (i.e. lung carcinogen activation and lung inflammation).

TL;DR: Ror2 expression is higher in the highly metastatic murine B16-BL6 melanoma cells than in the low metastatic variant B16 cells and the inhibition of Src kinase activity is critical for the Ror2-mediated cell migration upon Wnt5a treatment.

TL;DR: The data suggest that CDK/CYCLIND gene amplification may represent important mechanisms for functional inactivation of pRB in medulloblastoma and sPNET.

TL;DR: In this paper, a 2-bp GA deletion rs67491583 was found to affect a growth factor independent (GFI) binding site and was present only in individuals with African ancestry.

TL;DR: The data suggest that the rs28366003 SNP in MT2A is associated with the risk of prostate cancer in a Polish population.

TL;DR: It was showed that vPh was associated with poor OS and FFS and that ACA had adverse effects on EFS and F FS and that the development of OCA may not require a change in treatment strategy.