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Predispositions
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MUDr. Petra Kleiblová Ph.D.
Academic staff at First Faculty of Medicine
77 publications
Publications
publication
Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model
2017 |
First Faculty of Medicine
publication
PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic
2016 |
First Faculty of Medicine
publication
CZECANCA: CZEch CAncer paNel for Clinical Application - Design and Optimization of the Targeted Sequencing Panel for the Identification of Cancer Susceptibility in High-risk Individuals from the Czech Republi
2016 |
First Faculty of Medicine
publication
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients
2016 |
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
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
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
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