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germline mutations
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Person
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doc. MUDr. Petr Pohlreich CSc.
Academic staff at First Faculty of Medicine
99 publications
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
Screening for germline mutations in BRCA1 and BRCA2 genes in Czech republic
Publication without faculty affiliation
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
publication
Expression of human BRCA1 Delta 17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response
2013 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint
2013 |
First Faculty of Medicine
publication
The BRCA1 alternative splicing variant Delta 14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
The clinical importance of a genetic analysis of moderate-risk cancer susceptibility genes in breast and other cancer patients from the Czech Republic
2012 |
First Faculty of Medicine
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