Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis

Background: Most patients with ovarian cancer are diagnosed at a late stage because of the lack of early stage symptoms or effective screening methods. To address this issue, we evaluated the presence of DNA somatic variants in cervicovaginal samples to aid the detection and prognosis of ovarian can...

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Autores: Pelegrina, Beatriz, Paytubi, Sonia, Benavente, Yolanda, Marin, Fátima, López-Querol, Marta, Onieva, Irene, Frias-Gomez, Jon, Pavon-Diaz, Claudia, Martínez, José Manuel, Fernandez-Gonzalez, Sergi, Dorca, Eduard, Vidal, August, Barahona, Marc, Pérez-Escanilla, Yolanda, Brunet, Joan, Pineda, Marta, Pijuan, Lara, Ponce, Jordi, Matias-Guiu, Xavier, Alemany, Laia, Costas, Laura
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2026
País:España
Institución:Universitat de Lleida (UdL)
Repositorio:Repositori Obert UdL
OAI Identifier:oai:dnet:.___________::f79c48d067f9bbdad56c411ce5b0bdb0
Acceso en línea:https://doi.org/10.1016/j.tranon.2026.102712
https://hdl.handle.net/10459.1/469886
Access Level:acceso abierto
Palabra clave:Early detection
Mutations
NGS
Ovarian cancer
Pap smears
Vaginal samples
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spelling Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosisPelegrina, BeatrizPaytubi, SoniaBenavente, YolandaMarin, FátimaLópez-Querol, MartaOnieva, IreneFrias-Gomez, JonPavon-Diaz, ClaudiaMartínez, José ManuelFernandez-Gonzalez, SergiDorca, EduardVidal, AugustBarahona, MarcPérez-Escanilla, YolandaBrunet, JoanPineda, MartaPijuan, LaraPonce, JordiMatias-Guiu, XavierAlemany, LaiaCostas, LauraEarly detectionMutationsNGSOvarian cancerPap smearsVaginal samplesBackground: Most patients with ovarian cancer are diagnosed at a late stage because of the lack of early stage symptoms or effective screening methods. To address this issue, we evaluated the presence of DNA somatic variants in cervicovaginal samples to aid the detection and prognosis of ovarian cancer. Methods: We employed next-generation sequencing (NGS) with molecular identifiers to analyze samples from a case-control study involving women diagnosed with ovarian cancer and age-matched controls. The study included Pap smear samples from 43 patients with ovarian cancer and 99 controls, 27 paired vaginal self-samples, 16 endometrial aspirates, and 13 tumor samples from cases, for a total of 198 samples. Results: Pathogenic and likely pathogenic variants were identified in 25.6 % (11/43, 95 % confidence interval -CI-:13.5-41.2) of Pap smear samples from patients with ovarian cancer. These variants were also found in 33.3 % of the control samples, leading to a specificity of 66.7 % (66/99, 95 %CI:56.5-75.8 %). Among the paired samples, we observed pathogenic and likely pathogenic variants in 14.3 % (2/14, 95 %CI:1.78-42.8) of the vaginal samples, 77.8 % (7/9, 95 %CI:40.0-97.2) of the endometrial aspirates, and 69.2 % (9/13, 95 %CI:39.6-90.9) of the tumor samples. In the age- and stage-adjusted survival models, women with variants detected in Pap smear samples had poorer overall survival than those without variants (hazard ratio -HR-=4.27, 95 %CI:1.06-17.23; P = 0.041). Conclusions: DNA somatic variants in cervicovaginal samples have limited diagnostic value for detecting ovarian cancer. However, their presence may have prognostic significance, warranting further investigation. Future research could explore multimodal strategies that integrate molecular markers with imaging or other approaches to improve early detection.Elsevier2026info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://doi.org/10.1016/j.tranon.2026.102712https://hdl.handle.net/10459.1/469886reponame:Repositori Obert UdL instname:Universitat de Lleida (UdL)InglésReproducció del document publicat a: https://doi.org/10.1016/j.tranon.2026.102712Translational Oncology, 20026, vol. 66cc-by-nc-nd (c)The Authors, 2026Attribution-NonCommercial-NoDerivatives 4.0 Internationalinfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/4.0/oai:dnet:.___________::f79c48d067f9bbdad56c411ce5b0bdb02026-06-24T12:42:17Z
dc.title.none.fl_str_mv Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
title Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
spellingShingle Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
Pelegrina, Beatriz
Early detection
Mutations
NGS
Ovarian cancer
Pap smears
Vaginal samples
title_short Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
title_full Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
title_fullStr Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
title_full_unstemmed Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
title_sort Somatic mutations in cervicovaginal samples: assessing their role in ovarian cancer detection and prognosis
dc.creator.none.fl_str_mv Pelegrina, Beatriz
Paytubi, Sonia
Benavente, Yolanda
Marin, Fátima
López-Querol, Marta
Onieva, Irene
Frias-Gomez, Jon
Pavon-Diaz, Claudia
Martínez, José Manuel
Fernandez-Gonzalez, Sergi
Dorca, Eduard
Vidal, August
Barahona, Marc
Pérez-Escanilla, Yolanda
Brunet, Joan
Pineda, Marta
Pijuan, Lara
Ponce, Jordi
Matias-Guiu, Xavier
Alemany, Laia
Costas, Laura
author Pelegrina, Beatriz
author_facet Pelegrina, Beatriz
Paytubi, Sonia
Benavente, Yolanda
Marin, Fátima
López-Querol, Marta
Onieva, Irene
Frias-Gomez, Jon
Pavon-Diaz, Claudia
Martínez, José Manuel
Fernandez-Gonzalez, Sergi
Dorca, Eduard
Vidal, August
Barahona, Marc
Pérez-Escanilla, Yolanda
Brunet, Joan
Pineda, Marta
Pijuan, Lara
Ponce, Jordi
Matias-Guiu, Xavier
Alemany, Laia
Costas, Laura
author_role author
author2 Paytubi, Sonia
Benavente, Yolanda
Marin, Fátima
López-Querol, Marta
Onieva, Irene
Frias-Gomez, Jon
Pavon-Diaz, Claudia
Martínez, José Manuel
Fernandez-Gonzalez, Sergi
Dorca, Eduard
Vidal, August
Barahona, Marc
Pérez-Escanilla, Yolanda
Brunet, Joan
Pineda, Marta
Pijuan, Lara
Ponce, Jordi
Matias-Guiu, Xavier
Alemany, Laia
Costas, Laura
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Early detection
Mutations
NGS
Ovarian cancer
Pap smears
Vaginal samples
topic Early detection
Mutations
NGS
Ovarian cancer
Pap smears
Vaginal samples
description Background: Most patients with ovarian cancer are diagnosed at a late stage because of the lack of early stage symptoms or effective screening methods. To address this issue, we evaluated the presence of DNA somatic variants in cervicovaginal samples to aid the detection and prognosis of ovarian cancer. Methods: We employed next-generation sequencing (NGS) with molecular identifiers to analyze samples from a case-control study involving women diagnosed with ovarian cancer and age-matched controls. The study included Pap smear samples from 43 patients with ovarian cancer and 99 controls, 27 paired vaginal self-samples, 16 endometrial aspirates, and 13 tumor samples from cases, for a total of 198 samples. Results: Pathogenic and likely pathogenic variants were identified in 25.6 % (11/43, 95 % confidence interval -CI-:13.5-41.2) of Pap smear samples from patients with ovarian cancer. These variants were also found in 33.3 % of the control samples, leading to a specificity of 66.7 % (66/99, 95 %CI:56.5-75.8 %). Among the paired samples, we observed pathogenic and likely pathogenic variants in 14.3 % (2/14, 95 %CI:1.78-42.8) of the vaginal samples, 77.8 % (7/9, 95 %CI:40.0-97.2) of the endometrial aspirates, and 69.2 % (9/13, 95 %CI:39.6-90.9) of the tumor samples. In the age- and stage-adjusted survival models, women with variants detected in Pap smear samples had poorer overall survival than those without variants (hazard ratio -HR-=4.27, 95 %CI:1.06-17.23; P = 0.041). Conclusions: DNA somatic variants in cervicovaginal samples have limited diagnostic value for detecting ovarian cancer. However, their presence may have prognostic significance, warranting further investigation. Future research could explore multimodal strategies that integrate molecular markers with imaging or other approaches to improve early detection.
publishDate 2026
dc.date.none.fl_str_mv 2026
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://doi.org/10.1016/j.tranon.2026.102712
https://hdl.handle.net/10459.1/469886
url https://doi.org/10.1016/j.tranon.2026.102712
https://hdl.handle.net/10459.1/469886
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1016/j.tranon.2026.102712
Translational Oncology, 20026, vol. 66
dc.rights.none.fl_str_mv cc-by-nc-nd (c)The Authors, 2026
Attribution-NonCommercial-NoDerivatives 4.0 International
info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-nd/4.0/
rights_invalid_str_mv cc-by-nc-nd (c)The Authors, 2026
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositori Obert UdL
instname:Universitat de Lleida (UdL)
instname_str Universitat de Lleida (UdL)
reponame_str Repositori Obert UdL
collection Repositori Obert UdL
repository.name.fl_str_mv
repository.mail.fl_str_mv
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