Evidence map›Paper›PMID 41734472›Full record

ArticleTranslational oncology2026

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

Beatriz Pelegrina, Sonia Paytubi, Yolanda Benavente, Fátima Marin, Marta López-Querol, Irene Onieva, Jon Frias-Gomez, Claudia Pavon-Diaz, José Manuel Martínez, Sergi Fernandez-Gonzalez and 11 more

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Article in Translational oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

21 authors.

Beatriz PelegrinaCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Consortium for Biomedical Research in Epidemiology and Public Health - CIBERESP. Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain.
Sonia PaytubiCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Consortium for Biomedical Research in Epidemiology and Public Health - CIBERESP. Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain.
Yolanda BenaventeCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Consortium for Biomedical Research in Epidemiology and Public Health - CIBERESP. Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain.
Fátima MarinConsortium for Biomedical Research in Cancer - CIBERONC, Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, ONCOBELL Program, L'Hospitalet, Barcelona, Spain.
Marta López-QuerolCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain.
Irene OnievaCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain.
Jon Frias-GomezCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Consortium for Biomedical Research in Epidemiology and Public Health - CIBERESP. Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Faculty of Medicine, University of Barcelona, Spain.
Claudia Pavon-DiazCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain.
José Manuel MartínezDepartment of Gynecology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Sergi Fernandez-GonzalezDepartment of Gynecology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Eduard DorcaConsortium for Biomedical Research in Cancer - CIBERONC, Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Department of Pathology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
August VidalConsortium for Biomedical Research in Cancer - CIBERONC, Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Department of Pathology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Marc BarahonaDepartment of Gynecology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Yolanda Pérez-EscanillaDepartment of Gynecology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Joan BrunetConsortium for Biomedical Research in Cancer - CIBERONC, Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, ONCOBELL Program, L'Hospitalet, Barcelona, Spain; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBGI, Girona, Spain; Medical Oncology Department, Catalan Institute of Oncology, Doctor Josep Trueta Girona University Hospital, Girona, Spain.
Marta PinedaConsortium for Biomedical Research in Cancer - CIBERONC, Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, ONCOBELL Program, L'Hospitalet, Barcelona, Spain.
Lara PijuanConsortium for Biomedical Research in Cancer - CIBERONC, Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Department of Pathology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Jordi PonceDepartment of Gynecology, Hospital Universitari de Bellvitge, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
Xavier Matias-GuiuConsortium for Biomedical Research in Cancer - CIBERONC, Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain; Hospital Universitari Arnau de Vilanova, IRBLleida, Lleida, Spain.
Laia AlemanyCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Consortium for Biomedical Research in Epidemiology and Public Health - CIBERESP. Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain.
Laura CostasCancer Epidemiology Research Programme, Catalan Institute of Oncology. IDIBELL. Av Gran Vía 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain; Consortium for Biomedical Research in Epidemiology and Public Health - CIBERESP. Carlos III Institute of Health. Av. De Monforte de Lemos 5, 28029, Madrid, Spain. Electronic address: lcostas@iconcologia.net.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMost 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.

methodsWe 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.

resultsPathogenic 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).

conclusionsDNA 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.

Indexed as

Early detectionMutationsNGSOvarian cancerPap smearsVaginal samples

Identifiers

PMID41734472
PMCPMC13080598

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