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Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland

Over a 46-month period, the objectives of the National Cancer Control Program (NCCP, pol. Narodowy Program Zwalczania Chorób Nowotworowych), coordinated by the Ministry of Health, were pursued by conducting genetic diagnostics on individuals at high risk of developing cancer. A total of 1097 individ...

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Autores principales: Kałużewski, Tadeusz, Kubiak, Izabela, Bednarek, Michał, Sałamunia, Jordan, Kucharska, Dorota, Kępczyński, Łukasz, Stempień, Marek, Kubicki, Tobiasz, Trzciński, Radzisław, Gordon-Sönmez, Zofia, Bartosińska-Dyc, Anna, Gach, Agnieszka, Kałużewski, Bogdan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488022/
https://www.ncbi.nlm.nih.gov/pubmed/37685988
http://dx.doi.org/10.3390/ijms241713178
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author Kałużewski, Tadeusz
Kubiak, Izabela
Bednarek, Michał
Sałamunia, Jordan
Kucharska, Dorota
Kępczyński, Łukasz
Stempień, Marek
Kubicki, Tobiasz
Trzciński, Radzisław
Gordon-Sönmez, Zofia
Bartosińska-Dyc, Anna
Gach, Agnieszka
Kałużewski, Bogdan
author_facet Kałużewski, Tadeusz
Kubiak, Izabela
Bednarek, Michał
Sałamunia, Jordan
Kucharska, Dorota
Kępczyński, Łukasz
Stempień, Marek
Kubicki, Tobiasz
Trzciński, Radzisław
Gordon-Sönmez, Zofia
Bartosińska-Dyc, Anna
Gach, Agnieszka
Kałużewski, Bogdan
author_sort Kałużewski, Tadeusz
collection PubMed
description Over a 46-month period, the objectives of the National Cancer Control Program (NCCP, pol. Narodowy Program Zwalczania Chorób Nowotworowych), coordinated by the Ministry of Health, were pursued by conducting genetic diagnostics on individuals at high risk of developing cancer. A total of 1097 individuals were enrolled in the study, leading to the identification of 128 cases of germline mutations. The implementation of the NCCP led to the identification of genetic mutations in 4.43% of the patients qualified for BRCA1 and BRCA2 screening tests, in 18.18% of those qualified for a comprehensive next-generation sequencing (NGS) panel in cases of breast and ovarian cancer, and in 17.36% of cases of colorectal and endometrial cancer. The research conducted allowed us to establish individualized preventive and therapeutic approaches for mutation carriers. However, the results prove that liberalizing the inclusion criteria for high-throughput diagnostics and the use of broad gene panels could significantly increase the percentage of detected carriers. This publication serves as a summary and discussion of the results obtained from the implementation of the NCCP as well as of the role of genetic consulting in personalized medicine.
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spelling pubmed-104880222023-09-09 Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland Kałużewski, Tadeusz Kubiak, Izabela Bednarek, Michał Sałamunia, Jordan Kucharska, Dorota Kępczyński, Łukasz Stempień, Marek Kubicki, Tobiasz Trzciński, Radzisław Gordon-Sönmez, Zofia Bartosińska-Dyc, Anna Gach, Agnieszka Kałużewski, Bogdan Int J Mol Sci Article Over a 46-month period, the objectives of the National Cancer Control Program (NCCP, pol. Narodowy Program Zwalczania Chorób Nowotworowych), coordinated by the Ministry of Health, were pursued by conducting genetic diagnostics on individuals at high risk of developing cancer. A total of 1097 individuals were enrolled in the study, leading to the identification of 128 cases of germline mutations. The implementation of the NCCP led to the identification of genetic mutations in 4.43% of the patients qualified for BRCA1 and BRCA2 screening tests, in 18.18% of those qualified for a comprehensive next-generation sequencing (NGS) panel in cases of breast and ovarian cancer, and in 17.36% of cases of colorectal and endometrial cancer. The research conducted allowed us to establish individualized preventive and therapeutic approaches for mutation carriers. However, the results prove that liberalizing the inclusion criteria for high-throughput diagnostics and the use of broad gene panels could significantly increase the percentage of detected carriers. This publication serves as a summary and discussion of the results obtained from the implementation of the NCCP as well as of the role of genetic consulting in personalized medicine. MDPI 2023-08-24 /pmc/articles/PMC10488022/ /pubmed/37685988 http://dx.doi.org/10.3390/ijms241713178 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kałużewski, Tadeusz
Kubiak, Izabela
Bednarek, Michał
Sałamunia, Jordan
Kucharska, Dorota
Kępczyński, Łukasz
Stempień, Marek
Kubicki, Tobiasz
Trzciński, Radzisław
Gordon-Sönmez, Zofia
Bartosińska-Dyc, Anna
Gach, Agnieszka
Kałużewski, Bogdan
Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland
title Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland
title_full Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland
title_fullStr Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland
title_full_unstemmed Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland
title_short Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland
title_sort report on the effect of the implementation of an early detection and prevention of cancer program on families at high hereditary risk—concentrating on patients undergoing genetic diagnostics and counseling in central poland
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488022/
https://www.ncbi.nlm.nih.gov/pubmed/37685988
http://dx.doi.org/10.3390/ijms241713178
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