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RNDr. Jana Soukupová Ph.D.
Academic staff at First Faculty of Medicine
44 publications
Publications
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science
publication
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
2023 |
First Faculty of Medicine
publication
Genetic testing in ovarian cancer
2022 |
First Faculty of Medicine
publication
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes
2020 |
First Faculty of Medicine, Central Library of Charles University
publication
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
2020 |
First Faculty of Medicine
publication
Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance
2019 |
First Faculty of Medicine
publication
Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic
2019 |
First Faculty of Medicine
publication
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group
2018 |
First Faculty of Medicine
publication
Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic
2016 |
First Faculty of Medicine
publication
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic
2015 |
First Faculty of Medicine
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