1,015 research outputs found
Mesenchymal Tumours
No full textBreast harbors benign and malignat soft tissue tumours. In this chapter most of soft tissue tumours are delineated with emphasis on sarcoma, especially angiosarcomas
Invasive breast Carcinoma
No full textWHO publications on tumours are classical references on updated data of specific tumours. This book deals with breast tumours and has a worldwide spread
Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors
No full textBreast cancer; Evidence-generating care; Risk-adjusted preventionCáncer de mama; Atención generadora de evidencia; Prevención ajustada al riesgoCàncer de mama; Atenció generadora d'evidències; Prevenció ajustada al riscBackground: Risk-adjusted cancer screening and prevention is a promising and continuously emerging option for improving cancer prevention. It is driven by increasing knowledge of risk factors and the ability to determine them for individual risk prediction. However, there is a knowledge gap between evidence of increased risk and evidence of the effectiveness and efficiency of clinical preventive interventions based on increased risk. This gap is, in particular, aggravated by the extensive availability of genetic risk factor diagnostics, since the question of appropriate preventive measures immediately arises when an increased risk is identified. However, collecting proof of effective preventive measures, ideally by prospective randomized preventive studies, typically requires very long periods of time, while the knowledge about an increased risk immediately creates a high demand for action. Summary: Therefore, we propose a risk-adjusted prevention concept that is based on the best current evidence making needed and appropriate preventive measures available, and which is constantly evaluated through outcome evaluation, and continuously improved based on these results. We further discuss the structural and procedural requirements as well as legal and socioeconomical aspects relevant for the implementation of this concept.The project was funded by the German Federal Ministry of Health (grant No. 2515FSB401 to Rita Schmutzler and Christiane Woopen) for supporting the international expert meetings, and a grant of the EU Horizon 2020 program, BRIDGES (grant No. 634935, PI Peter Devilee, WP5-PI Rita Schmutzler), for the compilation of the most recent findings of genetic risk prediction
Prediction of "BRCAness" in breast cancer by array comparative genomic hybridization
No full textPredicting the likelihood that an individual is a BRCA mutation carrier is the first step to genetic counseling, followed by germ-line mutation testing in many family cancer clinics. Individuals who have been diagnosed as BRCA mutation-positive are offered special medical care; however, clinical management in the case of a negative test result or an unclassified variant in BRCA1 or BRCA2 can be difficult. Since it is estimated that 15% of BRCA mutation carriers are missed by current diagnostics and assessment of the clinical significance of many unclassified variants is complex and time consuming, new strategies are emerging that are able to predict BRCA dysfunction based on molecular tumor information (BRCAness) rather than on family history. This thesis starts with reviewing the importance of BRCA status assessment, followed by the studies performed by SA Joosse in which array comparative genomic hybridization has been utilized for the prediction of the involvement of BRCA in tumorigenesis.Dutch Cancer Society (KWF)UBL - phd migration 201
Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84
No full textThe localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and nonradioactive in situ hybridization techniques with a DNA clone designated L1.84. This clone represents a distinct subpopulation of the repetitive human alphoid DNA family, located in the centric region of chromosome 18. Under stringent hybridization conditions hybridization of L1.84 is restricted to chromosome 18 and reflects the number of these chromosomes present in the nuclei, namely, two in normal diploid human cells and three in nuclei from cells with trisomy 18. Under conditions of low stringency, cross-hybridization with other subpopulations of the alphoid DNA family occurs in the centromeric regions of the whole chromosome complement, and numerous hybridization sites are detected over interphase nuclei. Detection of chromosome-specific target DNAs by non-radioactive in situ hybridization with appropriate DNA probes cloned from individual chromosomal subregions presents a rapid means of identifying directly numerical or even structural chromosome aberrations in the interphase nucleus. Present limitations and future applications of interphase cytogenetics are discussed
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