ℹ️
🇬🇧
Search
Search for people relevant for "DNA repair"
DNA repair
Person
Class
Person
Publication
Programmes
RNDr. Filip Lhota Ph.D.
Academic staff at First Faculty of Medicine
11 publications
Publications
publication
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
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
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
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
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
2019 |
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
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
2018 |
First Faculty of Medicine
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
The c.657de15 variant in the NBN gene predisposes to pancreatic cancer
2016 |
First Faculty of Medicine
publication
RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk
2016 |
First Faculty of Medicine
Load more publications (1)
Loading network view...