Journal of Personalized Medicine (Jun 2022)
An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study
- Paula Peremiquel-Trillas,
- Sonia Paytubi,
- Beatriz Pelegrina,
- Jon Frias-Gomez,
- Álvaro Carmona,
- José Manuel Martínez,
- Javier de Francisco,
- Yolanda Benavente,
- Marc Barahona,
- Ferran Briansó,
- Júlia Canet-Hermida,
- Víctor Caño,
- August Vidal,
- Alba Zanca,
- Núria Baixeras,
- Axel Rodríguez,
- Sergi Fernández-Gonzalez,
- Núria Dueñas,
- Laura Càrdenas,
- Álvaro Aytés,
- Ilaria Bianchi,
- Miquel Àngel Pavón,
- Jaume Reventós,
- Gabriel Capellà,
- David Gómez,
- Mireia Diaz,
- Jordi Ponce,
- Joan Brunet,
- Xavier Matias-Guiu,
- Francesc Xavier Bosch,
- Silvia de Sanjosé,
- Laia Alemany,
- Marta Pineda,
- Fátima Marin,
- Laura Costas
Affiliations
- Paula Peremiquel-Trillas
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Sonia Paytubi
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Beatriz Pelegrina
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Jon Frias-Gomez
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Álvaro Carmona
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- José Manuel Martínez
- Department of Gynecology, IDIBELL, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, 08908 Barcelona, Spain
- Javier de Francisco
- Department of Anesthesiology, IDIBELL, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, 08908 Barcelona, Spain
- Yolanda Benavente
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Marc Barahona
- Department of Gynecology, IDIBELL, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, 08908 Barcelona, Spain
- Ferran Briansó
- Department of Genetics, Microbiology and Statistics, Universitat de Barcelona, 08028 Barcelona, Spain
- Júlia Canet-Hermida
- Hereditary Cancer Group, ONCOBELL Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet, 08908 Barcelona, Spain
- Víctor Caño
- Department of Anesthesiology, IDIBELL, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, 08908 Barcelona, Spain
- August Vidal
- Consortium for Biomedical Research in Cancer–CIBERONC, Carlos III Institute of Health, 28029 Madrid, Spain
- Alba Zanca
- Department of Pathology, IDIBELL, Hospitalet de Llobregat, Hospital Universitari de Bellvitge, 08907 Barcelona, Spain
- Núria Baixeras
- Department of Pathology, IDIBELL, Hospitalet de Llobregat, Hospital Universitari de Bellvitge, 08907 Barcelona, Spain
- Axel Rodríguez
- Department of Pathology, IDIBELL, Hospitalet de Llobregat, Hospital Universitari de Bellvitge, 08907 Barcelona, Spain
- Sergi Fernández-Gonzalez
- Department of Gynecology, IDIBELL, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, 08908 Barcelona, Spain
- Núria Dueñas
- Hereditary Cancer Group, ONCOBELL Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet, 08908 Barcelona, Spain
- Laura Càrdenas
- Department of Gynecology and Obstetrics, Hospital Universitari Dr. Josep Trueta, 17007 Girona, Spain
- Álvaro Aytés
- Program against Cancer Therapeutic Resistance (ProCURE), IDIBELL, Hospitalet de Llobregat, 08908 Barcelona, Spain
- Ilaria Bianchi
- ASSIR Delta, Serveis d’Atenció Primària Delta del Llobregat, Direcció d’Atenció Primària Costa de Ponent, Gerència Territorial Metropolitana Sud, Institut Català de la Salut, 08006 Barcelona, Spain
- Miquel Àngel Pavón
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Jaume Reventós
- Departament de Ciències Bàsiques, Universitat Internacional de Catalunya, 08017 Barcelona, Spain
- Gabriel Capellà
- Hereditary Cancer Group, ONCOBELL Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet, 08908 Barcelona, Spain
- David Gómez
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Mireia Diaz
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Jordi Ponce
- Department of Gynecology, IDIBELL, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, 08908 Barcelona, Spain
- Joan Brunet
- Hereditary Cancer Group, ONCOBELL Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet, 08908 Barcelona, Spain
- Xavier Matias-Guiu
- Consortium for Biomedical Research in Cancer–CIBERONC, Carlos III Institute of Health, 28029 Madrid, Spain
- Francesc Xavier Bosch
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Silvia de Sanjosé
- Consortium for Biomedical Research in Epidemiology and Public Health-CIBERESP, Carlos III Institute of Health, 28029 Madrid, Spain
- Laia Alemany
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- Marta Pineda
- Hereditary Cancer Group, ONCOBELL Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet, 08908 Barcelona, Spain
- Fátima Marin
- Hereditary Cancer Group, ONCOBELL Program, Catalan Institute of Oncology, IDIBELL, L’Hospitalet, 08908 Barcelona, Spain
- Laura Costas
- Cancer Epidemiology Research Programme, Catalan Institute of Oncology, IDIBELL, l’Hospitalet de Llobregat, 08908 Barcelona, Spain
- DOI
- https://doi.org/10.3390/jpm12071074
- Journal volume & issue
-
Vol. 12,
no. 7
p. 1074
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.
Keywords