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Title: | An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study |
Author: | Peremiquel-Trillas, Paula Paytubi Casabona, Sònia Pelegrina, Beatriz Frias Gomez, Jon Carmona, Álvaro Martínez Delgado, José Manuel Francisco, Javier de Benavente, Yolanda Barahona, Marc Briansó, Ferran Canet Hermida, Júlia Caño, Víctor Vidal, Augusto, 1909-1976 Zanca, Alba Baixeras, Núria Rodríguez, Axel Fernández Gonzalez, Sergi Dueñas, Nuria Càrdenas, Laura Aytés Meneses, Álvaro Bianchi, Ilaria Pavón, Miquel Àngel Reventós, Jaume Capellá, G. (Gabriel) Gómez, David, 1968- Diaz, Mireia Ponce, Jordi Brunet, Joan Matias-Guiu, Xavier Bosch Font, Francesc Sanjosé, Silvia de Alemany, Laia Pineda, Marta Marin, Fátima Costas, Laura |
Keywords: | Càncer d'endometri Càncer d'ovari Genòmica Endometrial cancer Ovarian cancer Genomics |
Issue Date: | 29-Jun-2022 |
Publisher: | MDPI AG |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.3390/jpm12071074 |
It is part of: | Journal of Personalized Medicine, 2022, vol. 12, num. 7, p. 1074 |
URI: | http://hdl.handle.net/2445/188929 |
Related resource: | https://doi.org/10.3390/jpm12071074 |
ISSN: | 2075-4426 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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