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In 2024, Research Programme 4 (RP4), which focuses on early detection and prevention of tumours, achieved several important milestones. This programme is based on an interdisciplinary collaboration of research teams that aim at linking basic research with clinical implementation.<\/strong><\/p>\n One of the key projects of RP4 is the study of lung cancer biomarkers in exhaled breath condensate. In 2024, this project had significantly expanded, thanks in part to the activity of NICR. It now brings together teams from the General University Hospital in Prague, the First Faculty of Medicine of the Charles University, University Hospital Olomouc, the Insititute of Molecular and Translational Medicine, Faculty of Medicine of Palack\u00fd University in Olomouc, and the Masaryk Memorial Cancer Institute. This multicentric study involves large cohorts of patients and controls, which facilitates a more robust validation of protein signatures for early detection of lung cancer. At this point, the project is validating the protein signature, and the study involves over 600 individuals. Preliminary results confirm the potential of this non-invasive method for clinical use, especially in high-risk groups such as current and former smokers.<\/span><\/p>\n Another important part of RP4 are predictive genetic analyses and models. This direction of research is led by Professor Zden\u011bk Kleibl from the Institute of Medical Biochemistry and Laboratory Diagnostics of the First Faculty of Medicine of the CU and General University Hospital. Their work focuses on identifying the genetic predispositions to cancers and brings crucial new information that can be used in personalised medicine. In 2024, in collaboration with the international ENIGMA consortium, the team completed an extensive functional analysis of missense variants of <\/span>CHEK2<\/span><\/i> gene. The results, published in <\/span>Clinical Cancer Research<\/span><\/i>, have proved an association between some missense variants of <\/span>CHEK2<\/span><\/i> and an increased risk of breast cancer. The study analysed over 340 variants in over 161,000 female patients with breast cancer and control subjects from 10 countries. The findings are important for genetic testing and personalised prevention.<\/span><\/p>\n In connection with this project, researchers have also characterised a novel deep recurrent intron deletion in the <\/span>CHEK2<\/span><\/i> gene (c.1009-118_1009-87delinsC), which leads to aberrant splicing and formation of prematurely terminated protein. This variant was identified as pathogenic and more frequent in female patients with breast cancer in the Czech Republic and Germany (<\/span>The Breast<\/span><\/i>, 2024). This research was closely connected with an analysis of polygenic risk scores (PRS) and other genetic studies conducted within the RP4. When evaluating the genetic factors in low-risk individuals, researchers have analysed sets 77 and 313 of known predisposition loci in 1,329 female patients with breast cancer and 1,324 controls without high- or medium-risk variants. The results have shown that panel PRS313 is significantly more accurate in predicting breast cancer risk than PRS77, whereby the highest PRS313 decile reaches the value of OR = 3.05 (95% CI, 1.66\u20135.89; p = 1.76 \u00d7 10E-4). These findings support the clinical usefulness of PRS313 in personalised prevention of breast cancer (<\/span>Cancer<\/span><\/i>, 2024).<\/span><\/p>\n The search for highly specific cancer biomarkers must go hand in hand with the search for new diagnostic methods. Collaboration across multidisciplinary teams within the NICR helps with a more effective identification of the needs of clinical centres, which can then be reflected in research. We find this emphasis also in Martin Barto\u0161\u00edk\u2019s team at the Masaryk Memorial Cancer Institute, where <\/span>Ludmila Mor\u00e1\u0148ov\u00e1<\/span>, a junior researcher, has been introducing new visions and developing project applications based on a close collaboration with young clinicians. These new ideas emerged from communication with young clinicians at informal meetings, which help overcome barriers between science and clinical practice. It is very important to bring research questions into a space where they can be readily understood by all participants.<\/span><\/p>\n Thanks to the financial support, the team can focus on challenges in the area of detection of biomarkers, especially on analysis of liquid biopsies. Blood samples contain biomolecules which can help with an early detection of as yet non-apparent cancerous processes. The current project had resulted in an acceptance of patent application for a unique diagnostic method to identify the <\/span>BRAF<\/span><\/i> V600E mutation in serum samples that contain circulating tumour DNA (ctDNA). This could be of key importance for predicting therapy response, especially in terms of eliminating tumour cells that react to anti-BRAF treatment. This research is a positive example of practical collaboration between hospitals and research institutions: one party learns about clinical needs, while the other party gets to better understand what research can offer. Multidisciplinary cooperation helps involve talented researchers who might otherwise overlook these important features of the context.<\/span><\/p>\n As part of this initiative, excellent research projects in analytical electrochemistry and biosensorics have resulted in a new international collaboration with the A-PECS research team at the University of Antwerp (Belgium).<\/span><\/p>\n The results achieved in 2024 confirm the importance of a multidisciplinary approach to early tumour detection and prevention. A key strength of RP4 is its close cooperation between various research teams, which links genetic analyses, biomarker studies, and the development of diagnostic instruments.<\/span><\/p>\n Genetic analyses conducted by Professor Kleibl\u2019s team contributed to the identification of risk-posing gene variants and a better stratification of patients. Advances in the study of genetic predispositions enable a more precise classification of risk groups and a more effective personalised prevention. Broadening of collaboration in the development of non-invasive diagnostic methods, especially the analysis of exhaled breath condensate, brings new possibilities for early detection of lung cancer. An important step forward is the patented diagnostic method for detecting the BRAF V600E mutation, which may improve the prediction of response to targeted therapy.<\/span><\/p>\n In the coming years, RP4 will focus on further clinical validation of these findings and their implementation in clinical practice. The teams involved will work on improving the sensitivity and specificity of biomarkers, optimising genetic testing, and a broadening the use of polygenic risk scores in cancer risk prediction.<\/span><\/p>\n The results achieved in 2024 confirm the importance of multidisciplinary approach to early detection and prevention of tumours. A broadening of collaboration in the development of non-invasive diagnostic methods, especially the analysis of exhaled breath condensate, offers new oportunities for early detection of lung cancer. Advances in the study of genetic predispositions enables a more precise stratification of risk groups and a more effective personalised prevention. The key factor in this endeavour is the close connection between the various directions of research, which facilitates a more comprehensive analysis of risk factors and a more effective implementation of results into clinical practice.<\/span><\/p>\n Petr D\u017eub\u00e1k, Marek Svoboda, main leaders of RP4<\/span><\/i><\/p>\n","protected":false},"excerpt":{"rendered":" In 2024, Research Programme 4 (RP4), which focuses on early detection and prevention of tumours, achieved several important milestones. This programme is based on an interdisciplinary collaboration of research teams that aim at linking basic research with clinical implementation.<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[78,84],"tags":[],"class_list":["post-3906","post","type-post","status-publish","format-standard","hentry","category-newsletter-inscider-en","category-sciprogramme-newsletter-inscider-en"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/posts\/3906","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/comments?post=3906"}],"version-history":[{"count":1,"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/posts\/3906\/revisions"}],"predecessor-version":[{"id":3914,"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/posts\/3906\/revisions\/3914"}],"wp:attachment":[{"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/media?parent=3906"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/categories?post=3906"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.nuvr.cz\/en\/wp-json\/wp\/v2\/tags?post=3906"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}Expanding collaboration in the investigation of biomarkers in exhaled breath condensate<\/b><\/h4>\n
Advances in the genetic analysis of tumour predispositions<\/b><\/h4>\n
Translation of clinical problems into research: Researchers in Brno come up with a new approach to developing diagnostic tools<\/b><\/h4>\n
Perspectives and future directions of RP4<\/b><\/h4>\n