Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
Authors
Keywords
Genetic causes of cancer, DNA fragmentation, Cancer detection and diagnosis, Next-generation sequencing, Bioinformatics, DNA sequencing, DNA replication, Genome sequencing
Journal
PLoS One
Volume 13, Issue 4, Pages e0195761
Publisher
Public Library of Science (PLoS)
Online
2018-04-13
DOI
10.1371/journal.pone.0195761
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Multigene Panel Testing Provides a New Perspective on Lynch Syndrome
- (2017) Carin R. Espenschied et al. JOURNAL OF CLINICAL ONCOLOGY
- Reference standards for next-generation sequencing
- (2017) Simon A. Hardwick et al. NATURE REVIEWS GENETICS
- Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer
- (2017) Rachel Pearlman et al. JAMA Oncology
- Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel
- (2016) Olivia Moran et al. BREAST CANCER RESEARCH AND TREATMENT
- Advances in the recognition and management of hereditary cancer
- (2016) Anju Kulkarni et al. BRITISH MEDICAL BULLETIN
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- Advances in inherited cancers: Introduction
- (2016) Elena M. Stoffel et al. SEMINARS IN ONCOLOGY
- Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic
- (2016) M. Borecka et al. Cancer Genetics
- Carrier screening by next-generation sequencing: health benefits and cost effectiveness
- (2016) Mohammad Azimi et al. Molecular Genetics & Genomic Medicine
- Guidelines for diagnostic next-generation sequencing
- (2015) Gert Matthijs et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
- (2015) Douglas F. Easton et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic
- (2015) Marketa Janatova et al. PLoS One
- Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma
- (2015) Ondrej Havranek et al. PLoS One
- Mainstreaming genetic testing of cancer predisposition genes
- (2014) N. Rahman CLINICAL MEDICINE
- Clinical Application of Whole-Genome Sequencing
- (2014) William Gregory Feero JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Realizing the promise of cancer predisposition genes
- (2014) Nazneen Rahman NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Sequencing depth and coverage: key considerations in genomic analyses
- (2014) David Sims et al. NATURE REVIEWS GENETICS
- Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives
- (2013) Min Zhao et al. BMC BIOINFORMATICS
- The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
- (2013) M. Janatova et al. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
- Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint
- (2013) Petra Kleiblova et al. JOURNAL OF CELL BIOLOGY
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- What can exome sequencing do for you?
- (2011) J. Majewski et al. JOURNAL OF MEDICAL GENETICS
- Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene
- (2010) Ivana Ticha et al. BREAST CANCER RESEARCH AND TREATMENT
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
- (2009) K. Ye et al. BIOINFORMATICS
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy
- (2009) Z. KLEIBL et al. NEOPLASMA
- The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population
- (2008) Zdenek Kleibl et al. EUROPEAN JOURNAL OF CANCER
- Inherited Susceptibility to Common Cancers
- (2008) William D. Foulkes NEW ENGLAND JOURNAL OF MEDICINE
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started