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An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study
Screenwide is a case-control study (2017–2021) including women with incident endometrial and ovarian cancers (EC and OC), BRCA1/2 and MMR pathogenic variant carriers, and age-matched controls from three centers in Spain. Participants completed a personal interview on their sociodemographic factors,...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324683/ https://www.ncbi.nlm.nih.gov/pubmed/35887570 http://dx.doi.org/10.3390/jpm12071074 |
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author | Peremiquel-Trillas, Paula Paytubi, Sonia Pelegrina, Beatriz Frias-Gomez, Jon Carmona, Álvaro Martínez, José Manuel de Francisco, Javier Benavente, Yolanda Barahona, Marc Briansó, Ferran Canet-Hermida, Júlia Caño, Víctor Vidal, August Zanca, Alba Baixeras, Núria Rodríguez, Axel Fernández-Gonzalez, Sergi Dueñas, Núria Càrdenas, Laura Aytés, Álvaro Bianchi, Ilaria Pavón, Miquel Àngel Reventós, Jaume Capellà, Gabriel Gómez, David Diaz, Mireia Ponce, Jordi Brunet, Joan Matias-Guiu, Xavier Bosch, Francesc Xavier de Sanjosé, Silvia Alemany, Laia Pineda, Marta Marin, Fátima Costas, Laura |
author_facet | Peremiquel-Trillas, Paula Paytubi, Sonia Pelegrina, Beatriz Frias-Gomez, Jon Carmona, Álvaro Martínez, José Manuel de Francisco, Javier Benavente, Yolanda Barahona, Marc Briansó, Ferran Canet-Hermida, Júlia Caño, Víctor Vidal, August Zanca, Alba Baixeras, Núria Rodríguez, Axel Fernández-Gonzalez, Sergi Dueñas, Núria Càrdenas, Laura Aytés, Álvaro Bianchi, Ilaria Pavón, Miquel Àngel Reventós, Jaume Capellà, Gabriel Gómez, David Diaz, Mireia Ponce, Jordi Brunet, Joan Matias-Guiu, Xavier Bosch, Francesc Xavier de Sanjosé, Silvia Alemany, Laia Pineda, Marta Marin, Fátima Costas, Laura |
author_sort | Peremiquel-Trillas, Paula |
collection | PubMed |
description | Screenwide is a case-control study (2017–2021) including women with incident endometrial and ovarian cancers (EC and OC), BRCA1/2 and MMR pathogenic variant carriers, and age-matched controls from three centers in Spain. Participants completed a personal interview on their sociodemographic factors, occupational exposure, medication, lifestyle, and medical history. We collected biological specimens, including blood samples, self-collected vaginal specimens, cervical pap-brush samples, uterine specimens, and, when available, tumor samples. The planned analyses included evaluation of the potential risk factors for EC/OC; evaluation of molecular biomarkers in minimally invasive samples; evaluation of the cost-effectiveness of molecular tests; and the generation of predictive scores to integrate different epidemiologic, clinical, and molecular factors. Overall, 182 EC, 69 OC, 98 BRCA pathogenic variant carriers, 104 MMR pathogenic variant carriers, and 385 controls were enrolled. The overall participation rate was 85.7%. The pilot study using 61 samples from nine EC cases and four controls showed that genetic variants at the variant allele fraction > 5% found in tumors (n = 61 variants across the nine tumors) were detected in paired endometrial aspirates, clinician-collected cervical samples, and vaginal self-samples with detection rates of 90% (55/61), 79% (48/61), and 72% (44/61) by duplex sequencing, respectively. Among the controls, only one somatic mutation was detected in a cervical sample. We enrolled more than 800 women to evaluate new early detection strategies. The preliminary data suggest that our methodological approach could be useful for the early detection of gynecological cancers. |
format | Online Article Text |
id | pubmed-9324683 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-93246832022-07-27 An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study Peremiquel-Trillas, Paula Paytubi, Sonia Pelegrina, Beatriz Frias-Gomez, Jon Carmona, Álvaro Martínez, José Manuel de Francisco, Javier Benavente, Yolanda Barahona, Marc Briansó, Ferran Canet-Hermida, Júlia Caño, Víctor Vidal, August Zanca, Alba Baixeras, Núria Rodríguez, Axel Fernández-Gonzalez, Sergi Dueñas, Núria Càrdenas, Laura Aytés, Álvaro Bianchi, Ilaria Pavón, Miquel Àngel Reventós, Jaume Capellà, Gabriel Gómez, David Diaz, Mireia Ponce, Jordi Brunet, Joan Matias-Guiu, Xavier Bosch, Francesc Xavier de Sanjosé, Silvia Alemany, Laia Pineda, Marta Marin, Fátima Costas, Laura J Pers Med Protocol Screenwide is a case-control study (2017–2021) including women with incident endometrial and ovarian cancers (EC and OC), BRCA1/2 and MMR pathogenic variant carriers, and age-matched controls from three centers in Spain. Participants completed a personal interview on their sociodemographic factors, occupational exposure, medication, lifestyle, and medical history. We collected biological specimens, including blood samples, self-collected vaginal specimens, cervical pap-brush samples, uterine specimens, and, when available, tumor samples. The planned analyses included evaluation of the potential risk factors for EC/OC; evaluation of molecular biomarkers in minimally invasive samples; evaluation of the cost-effectiveness of molecular tests; and the generation of predictive scores to integrate different epidemiologic, clinical, and molecular factors. Overall, 182 EC, 69 OC, 98 BRCA pathogenic variant carriers, 104 MMR pathogenic variant carriers, and 385 controls were enrolled. The overall participation rate was 85.7%. The pilot study using 61 samples from nine EC cases and four controls showed that genetic variants at the variant allele fraction > 5% found in tumors (n = 61 variants across the nine tumors) were detected in paired endometrial aspirates, clinician-collected cervical samples, and vaginal self-samples with detection rates of 90% (55/61), 79% (48/61), and 72% (44/61) by duplex sequencing, respectively. Among the controls, only one somatic mutation was detected in a cervical sample. We enrolled more than 800 women to evaluate new early detection strategies. The preliminary data suggest that our methodological approach could be useful for the early detection of gynecological cancers. MDPI 2022-06-29 /pmc/articles/PMC9324683/ /pubmed/35887570 http://dx.doi.org/10.3390/jpm12071074 Text en © 2022 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 | Protocol Peremiquel-Trillas, Paula Paytubi, Sonia Pelegrina, Beatriz Frias-Gomez, Jon Carmona, Álvaro Martínez, José Manuel de Francisco, Javier Benavente, Yolanda Barahona, Marc Briansó, Ferran Canet-Hermida, Júlia Caño, Víctor Vidal, August Zanca, Alba Baixeras, Núria Rodríguez, Axel Fernández-Gonzalez, Sergi Dueñas, Núria Càrdenas, Laura Aytés, Álvaro Bianchi, Ilaria Pavón, Miquel Àngel Reventós, Jaume Capellà, Gabriel Gómez, David Diaz, Mireia Ponce, Jordi Brunet, Joan Matias-Guiu, Xavier Bosch, Francesc Xavier de Sanjosé, Silvia Alemany, Laia Pineda, Marta Marin, Fátima Costas, Laura An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study |
title | An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study |
title_full | An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study |
title_fullStr | An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study |
title_full_unstemmed | An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study |
title_short | An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study |
title_sort | integrated approach for the early detection of endometrial and ovarian cancers (screenwide study): rationale, study design and pilot study |
topic | Protocol |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324683/ https://www.ncbi.nlm.nih.gov/pubmed/35887570 http://dx.doi.org/10.3390/jpm12071074 |
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