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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.
Kaluzewski, Tadeusz; Kubiak, Izabela; Bednarek, Michal; Salamunia, Jordan; Kucharska, Dorota; Kepczynski, Lukasz; Stempien, Marek; Kubicki, Tobiasz; Trzcinski, Radzislaw; Gordon-Sönmez, Zofia; Bartosinska-Dyc, Anna; Gach, Agnieszka; Kaluzewski, Bogdan.
Afiliación
  • Kaluzewski T; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 93-338 Lodz, Poland.
  • Kubiak I; R&D Department, Laboratory of Medical Genetics, GENOS Sp. z o.o., 91-033 Lodz, Poland.
  • Bednarek M; Regional Center for Cancer Prevention, Zdunska Wola District Hospital Sp. z o.o., 98-220 Zdunska Wola, Poland.
  • Salamunia J; R&D Department, Laboratory of Medical Genetics, GENOS Sp. z o.o., 91-033 Lodz, Poland.
  • Kucharska D; R&D Department, Laboratory of Medical Genetics, GENOS Sp. z o.o., 91-033 Lodz, Poland.
  • Kepczynski L; R&D Department, Laboratory of Medical Genetics, GENOS Sp. z o.o., 91-033 Lodz, Poland.
  • Stempien M; Regional Center for Cancer Prevention, Zdunska Wola District Hospital Sp. z o.o., 98-220 Zdunska Wola, Poland.
  • Kubicki T; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 93-338 Lodz, Poland.
  • Trzcinski R; Department of General and Colorectal Surgery with the Subdepartment of Oncological Surgery, Provincial Hospital John Paul II in Belchatów, 97-400 Belchatow, Poland.
  • Gordon-Sönmez Z; Sokrates Medical Center, 98-200 Sieradz, Poland.
  • Bartosinska-Dyc A; Department of General and Colorectal Surgery with the Subdepartment of Oncological Surgery, Provincial Hospital John Paul II in Belchatów, 97-400 Belchatow, Poland.
  • Gach A; Institute of Medical Sciences, Collegium Medium of the Jan Kochanowski University in Kielce, 25-369 Kielce, Poland.
  • Kaluzewski B; Department of Gynecology and Obstetrics, Zdunska Wola District Hospital Sp. z o.o., 98-220 Zdunska Wola, Poland.
Int J Mol Sci ; 24(17)2023 Aug 24.
Article en En | MEDLINE | ID: mdl-37685988
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias Endometriales Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies / Sysrev_observational_studies Aspecto: Implementation_research Límite: Female / Humans País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias Endometriales Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies / Sysrev_observational_studies Aspecto: Implementation_research Límite: Female / Humans País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Suiza