Reporting framework in the testing of predisposition to common adult solid tumors using next-generation sequencing
Jana Soukupová, Monika Koudová, Lenka Foretová, Vera Krutilkova et autres
0 citationsKlinicka onkologie
Spiros Tavandzis
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61Publications signalées
288Citations signalées
0Affiliations récentes
Domaines associés
BRCA gene mutations in cancerGenomics and Rare DiseasesGenetic factors in colorectal cancerDNA Repair MechanismsNutrition, Genetics, and Disease
Publications récentes
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk
Rick A.C.M. Boonen, Sabine Knaup, Roberta Menafra, Merel E. Braspenning et autres
0 citationsNature Communications
Table S3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná et autres
0 citations
Table S1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná et autres
0 citations
Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná et autres
0 citations
Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná et autres
0 citations
Family-based NGS panel testing of cardiopathies and arrhythmic syndromes
Hana Hrazderova, Jana Petřková, Anna Crhová, Klara Herkommerova et autres
3 citationsFrontiers in Genetics
Conditions and factors affecting the accuracy of olfactometric detection
Petra Riedlová, Spiros Tavandzis, Josef Káňa, Jaromı́r Roubec
1 citationHeliyon
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer
Jana Soukupová, Barbora Šťastná, Madiha Kanwal, J. Hojný et autres
5 citationsCancer Medicine
RAD18 directs DNA double-strand break repair by homologous recombination to post-replicative chromatin
Matous Palek, Natalie Palkova, Marta Černá, Klára Horáčková et autres
14 citationsNucleic Acids Research
Population‐specific validation and comparison of the performance of 77‐ and 313‐variant polygenic risk scores for breast cancer risk prediction
Milena Hovhannisyan, Petra Zemánková, Petr Nehasil, Kateřina Matějková et autres
2 citationsCancer
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
Petra Zemánková, Marta Černá, Klára Horáčková, Corinna Ernst et autres
4 citationsThe Breast
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