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Autor
Borecka, Marianna 1 Cerna, Leona 1 Cerna, Marta 1 Chvojka, Štěpán 1 Dostalek, Lukas 1 Duskova, Petra 1 Foretova, Lenka 1 Havranek, Ondrej 1 Horackova, Klara 1 Hovhannisyan, Milena 1 Janatova, Marketa 1 Jelinkova, Sandra 1 Kalousova, Marta 1 Kleibl, Zdenek 1 Kleiblova, Petra 1 Kosarova, Marcela 1 Koudova, Monika 1 Krutilkova, Vera 1 Král, Jan 1 Machackova, Eva 1
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Pracoviště
BIOCEV 1st Faculty of Medicine Charle... 1 Center for Medical Genetics and Repro... 1 Department of Biochemistry Faculty of... 1 Department of Cancer Epidemiology and... 1 Department of Gynecology and Obstetri... 1 Department of Medical Genetics AGEL L... 1 Department of Medical Genetics Facult... 1 Department of Medical Genetics Pronat... 1 Department of Obstetrics and Gynecolo... 1 Department of Oncology 1st Faculty of... 1 Department of Paediatrics and Inherit... 1 Institute of Biology and Medical Gene... 1 Institute of Medical Biochemistry and... 1 Institute of Pathological Physiology ... 1 Laboratory of Molecular Genetics Hosp... 1
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Autor
Borecka, Marianna 1 Cerna, Leona 1 Cerna, Marta 1 Chvojka, Štěpán 1 Dostalek, Lukas 1 Duskova, Petra 1 Foretova, Lenka 1 Havranek, Ondrej 1 Horackova, Klara 1 Hovhannisyan, Milena 1 Janatova, Marketa 1 Jelinkova, Sandra 1 Kalousova, Marta 1 Kleibl, Zdenek 1 Kleiblova, Petra 1 Kosarova, Marcela 1 Koudova, Monika 1 Krutilkova, Vera 1 Král, Jan 1 Machackova, Eva 1
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Pracoviště
BIOCEV 1st Faculty of Medicine Charle... 1 Center for Medical Genetics and Repro... 1 Department of Biochemistry Faculty of... 1 Department of Cancer Epidemiology and... 1 Department of Gynecology and Obstetri... 1 Department of Medical Genetics AGEL L... 1 Department of Medical Genetics Facult... 1 Department of Medical Genetics Pronat... 1 Department of Obstetrics and Gynecolo... 1 Department of Oncology 1st Faculty of... 1 Department of Paediatrics and Inherit... 1 Institute of Biology and Medical Gene... 1 Institute of Medical Biochemistry and... 1 Institute of Pathological Physiology ... 1 Laboratory of Molecular Genetics Hosp... 1
- Formát
- Publikační typ
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
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- Vlastník
- Král, Jan, 1985-
- Jelinkova, Sandra
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Zemankova, Petra
Autor Zemankova, Petra Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 120 00, Czech Republic Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague 120 00, Czech Republic
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Vocka, Michal
Autor Vocka, Michal Department of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 120 00, Czech Republic Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 120 00, Czech Republic
- Borecka, Marianna
- Cerna, Leona
- Cerna, Marta
- Dostalek, Lukas
- Duskova, Petra
- Foretova, Lenka
ProQuest Central od 2012-01-01
Health & Medicine (ProQuest) od 2012-01-01
PubMed
37153042
DOI
10.3892/ol.2023.13802
Knihovny.cz E-zdroje
Endometrial cancer (EC) is the most common gynecological malignancy in developed countries. The present study aimed to determine the frequency of germline pathogenic variants (PV) in patients with EC. In this multicenter retrospective cohort study, germline genetic testing (GGT) was performed in 527 patients with EC using a next generation sequencing panel targeting 226 genes, including 5 Lynch syndrome (LS) and 14 hereditary breast and ovarian cancer (HBOC) predisposition genes, and 207 candidate predisposition genes. Gene-level risks were calculated using 1,662 population-matched controls (PMCs). Patients were sub-categorized to fulfill GGT criteria for LS, HBOC, both or none. A total of 60 patients (11.4%) carried PV in LS (5.1%) and HBOC (6.6%) predisposition genes, including two carriers of double PV. PV in LS genes conferred a significantly higher EC risk [odds ratio (OR), 22.4; 95% CI, 7.8-64.3; P=1.8×10-17] than the most frequently altered HBOC genes BRCA1 (OR, 3.9; 95% CI, 1.6-9.5; P=0.001), BRCA2 (OR, 7.4; 95% CI, 1.9-28.9; P=0.002) and CHEK2 (OR, 3.2; 95% CI, 1.0-9.9; P=0.04). Furthermore, >6% of patients with EC not fulfilling LS or HBOC GGT indication criteria carried a PV in a clinically relevant gene. Carriers of PV in LS genes had a significantly lower age of EC onset than non-carriers (P=0.01). Another 11.0% of patients carried PV in a candidate gene (the most frequent were FANCA and MUTYH); however, their individual frequencies did not differ from PMCs (except for aggregated frequency of loss-of-function variants in POLE/POLD1; OR, 10.44; 95% CI, 1.1-100.5; P=0.012). The present study demonstrated the importance of GGT in patients with EC. The increased risk of EC of PV carriers in HBOC genes suggests that the diagnosis of EC should be included in the HBOC GGT criteria.
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Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.