Authors: J. Soukupová 1; M. Koudová 2; L. Foretová 3; V. Krutílková 4; V. Curtisová 5; I. Blaháková 6; I. Dolinová 7; P. Dušková 8; L. Faldynová 9; M. Fišer 10; N. Friedová 11,12; M. Gančarčíková 13; Š. Chvojka 2; M. Janatová 1; M. Janíková 5; P. Kleiblová 1,12; K. Kyselová 14; E. Macháčková 3; R. Měch 15; R. Michalovská 16; M. Nečesánková 17; Z. Spurná 10; M. Šedinová 18; M. Šenkeříková 19; Z. Šimková 20; J. Šimová 21; I. Šubrt 22; S. Tavandzis 4; P. Tesner 23; J. Turňová 24; Z. Vlčková 16; M. Vočka 12,25; Konsorcium Czecanca 1; pracovní skupina Onkogenetika SLG ČLS JEP 1; Z. Kleibl 1 Authors‘ workplace: Ústav lékařské biochemie a laboratorní diagnostiky 1. LF UK a VFN v Praze 1; GENNET a GNTlabs by GENNET, Praha 2; Oddělení epidemiologie a genetiky nádorů, MOÚ Brno 3; Oddělení lékařské genetiky, Laboratoře AGEL a. s., Nový Jičín 4; Ústav lékařské genetiky FN Olomouc 5; Centrální laboratoř genomika, CEITEC MU, Brno 6; Oddělení genetiky a molekulární diagnostiky, Krajská nemocnice Liberec 7; Laboratoř molekulární biologie a genetiky, Nemocnice České Budějovice, a. s. 8; Oddělení lékařské genetiky, Ústav molekulární patologie a lékařské genetiky, FN Ostrava 9; Lékařská genetika, Prenet, Pardubice 10; Oddělení lékařské genetiky, FTN Praha 11; Ústav biologie a lékařské genetiky 1. LF UK a VFN v Praze 12; Ústav klinické biochemie a diagnostiky LF v Hradci Králové UK a FN Hradec Králové 13; Centrum lékařské genetiky, SPADIA LAB, a. s. 14; Fertimed, s. r. o., Olomouc 15; Oddělení klinické genetiky, GHC Genetics, Praha 16; Genetika Plzeň, s. r. o., Plzeň 17; Nemocnice Jihlava, p. o., Jihlava 18; Oddělení lékařské genetiky, FN Hradec Králové 19; Ambulance lékařské genetiky, Nemocnice České Budějovice, a. s. 20; EUC Laboratoře CGB a. s. 21; Ústav lékařské genetiky LF v Plzni UK a FN Plzeň 22; Ústav biologie a lékařské genetiky 2. LF UK a FN Motol a Homolka 23; Oddělení lékařské genetiky, Pronatal, Praha 24; Onkologická klinika 1. LF UK a VFN v Praze 25 Published in: Klin Onkol 2026; 39(1): 56-63 Category: Original Articles doi: https://doi.org/10.48095/ccko202656
Background: Genetic testing for hereditary predisposition to solid tumors using next generation sequencing enables the analysis of a broad spectrum of genes and significantly increases diagnostic yield. However, expanding the scope of analyzed genomic regions also increases the likelihood of identifying so-called secondary findings, defined as pathogenic or likely pathogenic variants in genes unrelated to the primary indication for testing. These findings raise multiple practical, clinical, and ethical challenges. Material and methods: In the Czech Republic, an initiative was launched within the CZECANCA consortium and the Oncogenetics Working Group of the Society of Medical Genetics and Genomics of the Czech Medical Association of J. E. Purkyně with the aim of harmonizing the scope of reporting in cancer predisposition testing within the CZECANCA gene panel. Results: The consensus resulted in a list of genes and variants that should be routinely reported by laboratories during cancer predisposition testing, even in the absence of an explicit request from the indicating medical geneticist. Conclusion: The proposed harmonized approach to reporting secondary findings represents a practical tool for unifying laboratory practice in the Czech Republic. The document reflects the current state of knowledge in oncogenetics and will be regularly updated in response to emerging scientific evidence.
genetic testing – genes – high-throughput nucleotide sequencing – hereditary neoplastic syndromes – consensus
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