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Title:Povzetek poročila državnega Registra testiranih oseb iz družin, obremenjenih z dednim rakom
Authors:ID Hotujec, Simona (Author)
ID Blatnik, Ana (Author)
ID Stegel, Vida (Author)
ID Krajc, Mateja (Author)
Files:.pdf PDF - Presentation file, download (2,73 MB)
MD5: 6BE20F916649043115439F5947281DFC
 
Language:Slovenian
Typology:1.02 - Review Article
Organization:Logo OI - Institute of Oncology
Abstract:Izhodišče: Za lažje odkrivanje posameznikov z visoko ogrože-nostjo za razvoj raka ter učinkovitejše izvajanje genetskega testi-ranja in spremljanja nosilcev zarodnih genetskih okvar je bila leta 2019 ustanovljena državna baza podatkov, Register testiranih oseb iz družin, obremenjenih z dednim rakom, katerega upravlja-vec je Onkološki inštitut Ljubljana, njegov sedež pa je na Oddelku za onkološko klinično genetiko. Register vključuje podatke o osebah, ki so bile testirane za zarodne patogene različice/verjetno patogene različice (PR/VPR) v genih, ki so povezani z dedno predispozicijo za razvoj tumorjev. V članku predstavljamo povzetek poročila državnega Registra testiranih oseb iz družin, obremenjenih z dednim rakom, za obdobje 2000–2023. Metode: V analizi smo uporabili deskriptivno statistično analizo, pri čemer smo prešteli število opravljenih genetskih testiranj (preiskav) in število testiranih oseb. V poročilu smo prikazali število odkritih zarodnih PR/VPR v genih, ki so povezani z dedno predispozicijo za razvoj tumorjev. Podatke smo prikazali za vsako leto, za obdobje od leta 2000 do leta 2023.Rezultati: V zbirki podatkov registra je bilo v obdobju od leta 2000 do leta 2023 registriranih 12.904 testiranih posameznikov iz 8.781 družin. Pri 3.334 posameznikih iz 1.828 družin smo odkrili vsaj eno zarodno PR/VPR v genu, ki je povezan z dedno predispozicijo za razvoj tumorjev. Pozitiven izvid genetskega testiranja je tako imela dobra četrtina vseh testiranih ali 26 %, velika večina na področju dednega raka dojk in/ali jajčnikov. Zaključek: Zbiranje podatkov testiranih oseb iz družin, obremenjenih z dednim rakom, in letna analiza v obliki poročil nam omogočata celovito spremljanje epidemioloških trendov, predvsem incidence in prevalence nosilcev dednih predispozicij za razvoj tumorjev, ter lažje načrtovanje zdravstvene oskrbe teh posameznikov na državni ravni.
Keywords:genetsko testiranje, dednost, ogroženost za raka
Publication status:Published
Publication version:Version of Record
Publication date:01.12.2025
Place of publishing:Ljubljana
Publisher:Onkološki inštitut Ljubljana
Year of publishing:2025
Number of pages:str. 16-22
Numbering:Letn. 29, št. 2
Source:Ljubljana
PID:20.500.12556/DiRROS-25477 New window
UDC:616-006
ISSN on article:1408-1741
DOI:10.25670/oi2025-011on New window
COBISS.SI-ID:262931203 New window
Copyright:by Authors
Publication date in DiRROS:21.01.2026
Views:152
Downloads:45
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Record is a part of a journal

Title:Onkologija
Shortened title:Onkologija
Publisher:Onkološki inštitut
ISSN:1408-1741
COBISS.SI-ID:65324032 New window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

Language:English
Title:Summary of the report of the national Registry of Tested Individuals from Families with Hereditary Cancer 2000 – 2023
Abstract:Background: In order to facilitate the identification of individuals at high risk for cancer, improve the implementation of genetic testing, and enable effective monitoring of carriers of high cancer risk variants, a national database—the National Registry of Tested Individuals from Families with Hereditary Cancer—was establi-shed in 2019. The registry is managed by the Institute of Oncology Ljubljana and is based at the Department of Clinical Cancer Genetics. It includes data on individuals tested for germline patho-genic or likely pathogenic variants (PV/LPV) in genes associated with hereditary predisposition for tumour development. This article presents a summary of the report of the National Registry of Tested Individuals from Families with Hereditary Cancer for the period 2000–2023. Methods: A descriptive statistical analysis was performed, including the analysis of the number of genetic tests performed, the number of individuals tested, and the number of identified germline PV/LPVs in genes associated with hereditary tumour predisposition by year, for the period 2000–2023. Results: From 2000 to 2023, the registry recorded 12,904 tested individuals from 8,781 families. At least one germline PV/LPV in a gene associated with hereditary tumour predisposition was identified in 3,334 individuals from 1,828 families. Thus, a positive genetic test result was found in about one-quarter (26%) of all tested individuals, the majority within the field of hereditary breast and/or ovarian cancer.Conclusion: The collection of data of tested individuals from families with hereditary cancer, together with annual analyses in the form of reports, enables comprehensive monitoring of epidemio-logical trends—particularly the incidence and prevalence of carriers with hereditary predispositions for tumour development—and facilitates better planning of healthcare for these individuals at the national level.


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This document is a part of these collections:
  1. Onkologija : strokovni časopis za zdravnike

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