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ENIGMA
Person
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Person
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RNDr. Jana Soukupová Ph.D.
Academic staff at First Faculty of Medicine
44 publications
Publications
publication
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
2023 |
First Faculty of Medicine, Central Library of Charles University
publication
BRCA1 and BRCA2 5 ' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
2018 |
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
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science
publication
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex
2023 |
First Faculty of Medicine, Faculty of Science
publication
BRCA mutation carriers suffering from ovarian cancer as a model for treatment decision in higher lines - Place for platinum reinduction
2023 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Polygenic risk score (PRS) and its potential for breast cancer risk stratification
2023 |
First Faculty of Medicine
publication
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
2023 |
First Faculty of Medicine
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