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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,...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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