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germline mutation
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prof. MUDr. Zdeněk Kleibl Ph.D.
Academic staff at First Faculty of Medicine
1 class
2 study programmes
184 publications
Class
class
Selected chapters of biochemistry and pathobiochemistry
B90008 |
First Faculty of Medicine
Study programme
programme
Biochemistry and Pathobiochemistry
+1
🇨🇿 PhD. |
First Faculty of Medicine
Publications
publication
The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
2013 |
First Faculty of Medicine
publication
Germline mutations 657del5 and 643C > T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women
2012 |
First Faculty of Medicine
publication
The CHEK2 c. 1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic
2005 |
First Faculty of Medicine
publication
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area
2005 |
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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