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germline variant
Publication
Class
Person
Publication
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publication
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer
2022 |
Faculty of Medicine in Pilsen
publication
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer
2021 |
Faculty of Medicine in Pilsen
publication
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer
2022 |
Faculty of Medicine in Pilsen
publication
CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate
2020 |
First Faculty of Medicine
publication
Rare deleterious germline variants and risk of lung cancer
2021 |
Second Faculty of Medicine
publication
Characterization of rare germline variants in familial multiple myeloma
2021 |
Faculty of Medicine in Pilsen
publication
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
2022 |
Faculty of Medicine in Pilsen
publication
A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient
2015 |
First Faculty of Medicine
publication
Germline variants of the promyelocytic leukemia tumor suppressor gene in patients with familial cancer
2009 |
Second 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
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer
2020 |
Faculty of Medicine in Pilsen
publication
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
2021 |
Faculty of Medicine in Pilsen
publication
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer
2021 |
Faculty of Medicine in Pilsen
publication
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing
2020 |
Faculty of Medicine in Pilsen
publication
Genetic insights into biological mechanisms governing human ovarian ageing
2021 |
Faculty of Science
publication
JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility
2019 |
Second Faculty of Medicine
publication
Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors
2014 |
First Faculty of Medicine
publication
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
2019 |
Second Faculty of Medicine
publication
Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 |
Second Faculty of Medicine
publication
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Faculty of Science, Central Library of Charles University
publication
Germline and somatic genetic variability of oxysterol-related genes in breast cancer patients with early disease of the luminal subtype
2022 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma
2023 |
Faculty of Medicine in Pilsen
publication
Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450
2020 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
2022 |
Second Faculty of Medicine
publication
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers
2020 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science, Central Library of Charles University
publication
Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response
2020 |
Faculty of Medicine in Pilsen
publication
Role of Genetic Variation in Cytochromes P450 in Breast Cancer Prognosis and Therapy Response
2021 |
Faculty of Medicine in Pilsen
publication
Germline SUCLG2 Variants in Patients With Pheochromocytoma and Paraganglioma
2022 |
Faculty of Science, Central Library of Charles University
publication
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing
2018 |
Second Faculty of Medicine
publication
Somatic genetic alterations in a large cohort of pediatric thyroid nodules
2019 |
Second Faculty of Medicine